UniProtKB - P17302 (CXA1_HUMAN)
Protein
Gap junction alpha-1 protein
Gene
GJA1
Organism
Homo sapiens (Human)
Status
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
GO - Molecular functioni
- alpha-tubulin binding Source: UniProtKB
- beta-catenin binding Source: ARUK-UCL
- connexin binding Source: Ensembl
- disordered domain specific binding Source: Ensembl
- efflux transmembrane transporter activity Source: ARUK-UCL
- gap junction channel activity Source: BHF-UCL
- gap junction channel activity involved in cardiac conduction electrical coupling Source: BHF-UCL
- gap junction channel activity involved in cell communication by electrical coupling Source: BHF-UCL
- gap junction hemi-channel activity Source: UniProtKB
- glutathione transmembrane transporter activity Source: ARUK-UCL
- ion transmembrane transporter activity Source: BHF-UCL
- PDZ domain binding Source: Ensembl
- SH3 domain binding Source: Ensembl
- tubulin binding Source: UniProtKB
GO - Biological processi
- apoptotic process Source: Ensembl
- ATP transport Source: Ensembl
- atrial cardiac muscle cell action potential Source: BHF-UCL
- bone development Source: UniProtKB
- bone remodeling Source: UniProtKB
- cell-cell signaling Source: BHF-UCL
- cell communication by electrical coupling Source: BHF-UCL
- cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
- cellular protein localization Source: ARUK-UCL
- cellular response to amyloid-beta Source: ARUK-UCL
- cellular response to mechanical stimulus Source: Ensembl
- cellular response to parathyroid hormone stimulus Source: Ensembl
- chronic inflammatory response Source: Ensembl
- decidualization Source: Ensembl
- endothelium development Source: Ensembl
- epididymis development Source: Ensembl
- establishment of mitotic spindle orientation Source: ARUK-UCL
- export across plasma membrane Source: ARUK-UCL
- gap junction assembly Source: UniProtKB
- glutamate secretion Source: ARUK-UCL
- heart development Source: Ensembl
- ion transmembrane transport Source: BHF-UCL
- maintenance of blood-brain barrier Source: ARUK-UCL
- maintenance of protein localization in endoplasmic reticulum Source: Ensembl
- microtubule-based transport Source: UniProtKB
- negative regulation of cardiac muscle cell proliferation Source: Ensembl
- negative regulation of cell growth Source: UniProtKB
- negative regulation of DNA biosynthetic process Source: Ensembl
- negative regulation of endothelial cell proliferation Source: Ensembl
- negative regulation of gonadotropin secretion Source: ARUK-UCL
- negative regulation of trophoblast cell migration Source: ARUK-UCL
- negative regulation of wound healing Source: Ensembl
- neuron projection morphogenesis Source: Ensembl
- positive regulation of behavioral fear response Source: Ensembl
- positive regulation of cell communication by chemical coupling Source: Ensembl
- positive regulation of cold-induced thermogenesis Source: YuBioLab
- positive regulation of cytosolic calcium ion concentration Source: Ensembl
- positive regulation of gene expression Source: ARUK-UCL
- positive regulation of glomerular filtration Source: Ensembl
- positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
- positive regulation of insulin secretion Source: Ensembl
- positive regulation of mesodermal cell differentiation Source: ARUK-UCL
- positive regulation of morphogenesis of an epithelium Source: ARUK-UCL
- positive regulation of protein catabolic process Source: Ensembl
- positive regulation of stem cell proliferation Source: ARUK-UCL
- positive regulation of vascular associated smooth muscle cell proliferation Source: ARUK-UCL
- positive regulation of vasoconstriction Source: Ensembl
- regulation of apoptotic process Source: Ensembl
- regulation of bicellular tight junction assembly Source: Ensembl
- regulation of calcium ion transport Source: Ensembl
- regulation of cell communication by electrical coupling Source: Ensembl
- regulation of transmembrane transporter activity Source: Ensembl
- response to estradiol Source: Ensembl
- response to fluid shear stress Source: Ensembl
- response to glucose Source: Ensembl
- response to ischemia Source: Ensembl
- response to lipopolysaccharide Source: Ensembl
- response to peptide hormone Source: Ensembl
- response to pH Source: Ensembl
- response to retinoic acid Source: Ensembl
- signal transduction Source: BHF-UCL
- spermatogenesis Source: UniProtKB
- vascular transport Source: Ensembl
- xenobiotic transport Source: ARUK-UCL
Enzyme and pathway databases
| PathwayCommonsi | P17302 |
| 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 |
| SignaLinki | P17302 |
| SIGNORi | P17302 |
Names & Taxonomyi
| Protein namesi | Recommended name: Gap junction alpha-1 proteinAlternative name(s): Connexin-43 Short name: Cx43 Gap junction 43 kDa heart protein |
| Gene namesi | Name:GJA1 Synonyms:GJAL |
| Organismi | Homo sapiens (Human) |
| Taxonomic identifieri | 9606 [NCBI] |
| Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
| Proteomesi |
|
Organism-specific databases
| HGNCi | HGNC:4274, GJA1 |
| MIMi | 121014, gene |
| neXtProti | NX_P17302 |
| VEuPathDBi | HostDB:ENSG00000152661.7 |
Subcellular locationi
Endoplasmic reticulum
- Endoplasmic reticulum By similarity
Plasma membrane
- Cell membrane 2 Publications; Multi-pass membrane protein Sequence analysis
Other locations
- gap junction 2 Publications
Note: Localizes at the intercalated disk (ICD) in cardiomyocytes and the proper localization at ICD is dependent on TMEM65.By similarity
Endoplasmic reticulum
- endoplasmic reticulum membrane Source: Reactome
Endosome
- early endosome Source: Ensembl
- multivesicular body Source: Ensembl
Golgi apparatus
- Golgi apparatus Source: BHF-UCL
- Golgi membrane Source: Reactome
Lysosome
- lysosome Source: Ensembl
Mitochondrion
- mitochondrial outer membrane Source: Ensembl
- mitochondrion Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
- nucleus Source: UniProtKB
Plasma Membrane
- apical plasma membrane Source: UniProtKB
- connexin complex Source: UniProtKB
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: ARUK-UCL
Other locations
- cell junction Source: UniProtKB
- cell-cell contact zone Source: ARUK-UCL
- cytoplasm Source: ARUK-UCL
- fascia adherens Source: Ensembl
- focal adhesion Source: UniProtKB
- gap junction Source: BHF-UCL
- Golgi-associated vesicle membrane Source: Reactome
- intercalated disc Source: BHF-UCL
- intracellular membrane-bounded organelle Source: HPA
- membrane raft Source: BHF-UCL
- tight junction Source: ARUK-UCL
Topology
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Topological domaini | 2 – 23 | CytoplasmicBy similarityAdd BLAST | 22 | |
| Transmembranei | 24 – 44 | HelicalSequence analysisAdd BLAST | 21 | |
| Topological domaini | 45 – 76 | ExtracellularBy similarityAdd BLAST | 32 | |
| Transmembranei | 77 – 97 | HelicalSequence analysisAdd BLAST | 21 | |
| Topological domaini | 98 – 155 | CytoplasmicBy similarityAdd BLAST | 58 | |
| Transmembranei | 156 – 176 | HelicalSequence analysisAdd BLAST | 21 | |
| Topological domaini | 177 – 207 | ExtracellularBy similarityAdd BLAST | 31 | |
| Transmembranei | 208 – 228 | HelicalSequence analysisAdd BLAST | 21 | |
| Topological domaini | 229 – 382 | CytoplasmicBy similarityAdd BLAST | 154 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Endoplasmic reticulum, Gap junction, MembranePathology & Biotechi
Involvement in diseasei
Oculodentodigital dysplasia (ODDD)17 Publications
The disease is caused by variants 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 key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_058990 | 2 | G → V in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_058991 | 7 | L → V in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_078238 | 11 | L → I in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_058992 | 11 | L → P in ODDD. 2 PublicationsCorresponds to variant dbSNP:rs121912969EnsemblClinVar. | 1 | |
| Natural variantiVAR_015747 | 17 | Y → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893961EnsemblClinVar. | 1 | |
| Natural variantiVAR_015748 | 18 | S → P in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893962EnsemblClinVar. | 1 | |
| Natural variantiVAR_015749 | 21 | G → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893963EnsemblClinVar. | 1 | |
| Natural variantiVAR_015750 | 22 | G → E in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893964EnsemblClinVar. | 1 | |
| Natural variantiVAR_015751 | 23 | K → T in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_038356 | 27 | S → P in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_038357 | 31 | I → M in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_015752 | 40 | A → V in ODDD. 4 PublicationsCorresponds to variant dbSNP:rs1554200992EnsemblClinVar. | 1 | |
| Natural variantiVAR_070439 | 41 – 44 | Missing in ODDD. 1 Publication | 4 | |
| Natural variantiVAR_071009 | 47 | D → H in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_015753 | 49 | Q → K in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_058994 | 49 | Q → P in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_058995 | 49 | Q → QQ in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_015754 | 52 | F → FF in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_058996 | 59 | P → H in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_038358 | 69 | S → Y in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_015755 | 76 | R → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs267606845EnsemblClinVar. | 1 | |
| Natural variantiVAR_071010 | 86 | S → Y in ODDD; de novo mutation found in a sporadic case. 1 Publication | 1 | |
| Natural variantiVAR_015756 | 90 | L → V in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_058998 | 95 | H → R in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_058999 | 96 | V → A in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_059000 | 96 | V → E in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_059001 | 96 | V → M in ODDD. 1 PublicationCorresponds to variant dbSNP:rs28931601EnsemblClinVar. | 1 | |
| Natural variantiVAR_015757 | 98 | Y → C in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_015758 | 102 | K → N in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1554201011EnsemblClinVar. | 1 | |
| Natural variantiVAR_059002 | 106 | L → P in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_071011 | 106 | L → R in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_059003 | 110 | E → D in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_038359 | 113 | L → P in ODDD. 2 Publications | 1 | |
| Natural variantiVAR_015759 | 130 | I → T in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1554201017EnsemblClinVar. | 1 | |
| Natural variantiVAR_015760 | 134 | K → E in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_038360 | 134 | K → N in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_015761 | 138 | G → R in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_059004 | 147 | M → T in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1057518872EnsemblClinVar. | 1 | |
| Natural variantiVAR_014095 | 148 | R → Q in ODDD. 1 PublicationCorresponds to variant dbSNP:rs962041031EnsemblClinVar. | 1 | |
| Natural variantiVAR_059005 | 154 | T → A in ODDD. 2 Publications | 1 | |
| Natural variantiVAR_059006 | 154 | T → N in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_059007 | 169 | Missing in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_059008 | 194 | H → 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_059009 | 201 | S → F in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_015762 | 202 | R → H in ODDD. 3 PublicationsCorresponds to variant dbSNP:rs750294638EnsemblClinVar. | 1 | |
| Natural variantiVAR_070440 | 206 | K → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs397518464EnsemblClinVar. | 1 | |
| Natural variantiVAR_015763 | 216 | V → L in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1554201043EnsemblClinVar. | 1 | |
| Natural variantiVAR_059010 | 220 | S → Y in ODDD. 1 Publication | 1 |
Oculodentodigital dysplasia, autosomal recessive (ODDD-AR)1 Publication
The disease is caused by variants 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 OMIMSyndactyly 3 (SDTY3)1 Publication
The disease may be caused by variants 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 key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_038361 | 143 | G → S in SDTY3. 1 PublicationCorresponds to variant dbSNP:rs28931600EnsemblClinVar. | 1 |
Hypoplastic left heart syndrome 1 (HLHS1)1 Publication
The disease is caused by variants 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 key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_032924 | 362 | R → 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_032925 | 376 | R → 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 variants 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 key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_058997 | 76 | R → 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 variants 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 key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_032924 | 362 | R → 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_032925 | 376 | R → 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 variants 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 key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_070441 | 239 | R → Q in CMDR. 1 PublicationCorresponds to variant dbSNP:rs764670582EnsemblClinVar. | 1 |
Erythrokeratodermia variabilis et progressiva 3 (EKVP3)1 Publication
The disease is caused by variants 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 key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_075755 | 44 | A → V in EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs794729675EnsemblClinVar. | 1 | |
| Natural variantiVAR_075756 | 227 | E → 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 variants 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 key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_075754 | 8 | G → 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 variant, Hypotrichosis, Palmoplantar keratodermaOrganism-specific databases
| DisGeNETi | 2697 |
| MalaCardsi | GJA1 |
| MIMi | 104100, phenotype 164200, phenotype 186100, phenotype 218400, phenotype 234100, phenotype 241550, phenotype 257850, phenotype 600309, phenotype 617525, phenotype |
| OpenTargetsi | ENSG00000152661 |
| 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 |
| PharmGKBi | PA28685 |
Miscellaneous databases
| Pharosi | P17302, Tbio |
Chemistry databases
| DrugBanki | DB01136, Carvedilol |
Genetic variation databases
| BioMutai | GJA1 |
| DMDMi | 117706 |
PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Initiator methioninei | RemovedBy similarity | |||
| ChainiPRO_0000057801 | 2 – 382 | Gap junction alpha-1 proteinAdd BLAST | 381 |
Amino acid modifications
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Modified residuei | 5 | PhosphoserineBy similarity | 1 | |
| Disulfide bondi | 54 ↔ 192 | 1 Publication | ||
| Cross-linki | 144 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
| Disulfide bondi | 187 ↔ 198 | 1 Publication | ||
| Cross-linki | 237 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication | ||
| Modified residuei | 247 | PhosphotyrosineBy similarity | 1 | |
| Modified residuei | 255 | PhosphoserineCombined sources1 Publication | 1 | |
| Modified residuei | 262 | Phosphoserine2 Publications | 1 | |
| Modified residuei | 271 | S-nitrosocysteineBy similarity | 1 | |
| Modified residuei | 275 | PhosphothreonineBy similarity | 1 | |
| Modified residuei | 306 | PhosphoserineBy similarity | 1 | |
| Modified residuei | 314 | PhosphoserineCombined sources | 1 | |
| Modified residuei | 325 | Phosphoserine; by CK11 Publication | 1 | |
| Modified residuei | 326 | PhosphothreonineBy similarity | 1 | |
| Modified residuei | 328 | Phosphoserine; by CK11 Publication | 1 | |
| Modified residuei | 330 | Phosphoserine; by CK11 Publication | 1 | |
| Modified residuei | 344 | PhosphoserineCombined sources | 1 | |
| Modified residuei | 365 | PhosphoserineBy similarity | 1 | |
| Modified residuei | 368 | Phosphoserine; by PKC/PRKCG and PKC/PRKCDBy similarity | 1 | |
| Modified residuei | 369 | PhosphoserineBy similarity | 1 | |
| Modified residuei | 373 | PhosphoserineBy similarity | 1 |
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.By similarity
Acetylated in the developing cortex; leading to delocalization from the cell membrane.By similarity
Keywords - PTMi
Acetylation, Disulfide bond, Isopeptide bond, Phosphoprotein, S-nitrosylation, Ubl conjugationProteomic databases
| EPDi | P17302 |
| jPOSTi | P17302 |
| MassIVEi | P17302 |
| MaxQBi | P17302 |
| PaxDbi | P17302 |
| PeptideAtlasi | P17302 |
| PRIDEi | P17302 |
| ProteomicsDBi | 53467 |
| TopDownProteomicsi | P17302 |
PTM databases
| iPTMneti | P17302 |
| PhosphoSitePlusi | P17302 |
Expressioni
Tissue specificityi
Expressed in the heart and fetal cochlea.1 Publication
Gene expression databases
| Bgeei | ENSG00000152661, Expressed in pigmented layer of retina and 245 other tissues |
| Genevisiblei | P17302, HS |
Organism-specific databases
| HPAi | ENSG00000152661, Low tissue specificity |
Interactioni
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 PublicationsBinary interactionsi
Hide detailsP17302
GO - Molecular functioni
- alpha-tubulin binding Source: UniProtKB
- beta-catenin binding Source: ARUK-UCL
- connexin binding Source: Ensembl
- disordered domain specific binding Source: Ensembl
- PDZ domain binding Source: Ensembl
- SH3 domain binding Source: Ensembl
- tubulin binding Source: UniProtKB
Protein-protein interaction databases
| BioGRIDi | 108964, 99 interactors |
| IntActi | P17302, 46 interactors |
| MINTi | P17302 |
| STRINGi | 9606.ENSP00000282561 |
Miscellaneous databases
| RNActi | P17302, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
| BMRBi | P17302 |
| SMRi | P17302 |
| ModBasei | Search... |
| PDBe-KBi | Search... |
Family & Domainsi
Region
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Regioni | 244 – 382 | Interaction with NOVBy similarityAdd BLAST | 139 | |
| Regioni | 264 – 382 | Interaction with UBQLN4By similarityAdd BLAST | 119 |
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
| eggNOGi | ENOG502QRAE, Eukaryota |
| GeneTreei | ENSGT00990000203503 |
| HOGENOMi | CLU_037388_0_0_1 |
| InParanoidi | P17302 |
| OMAi | LVIQWYM |
| OrthoDBi | 519426at2759 |
| PhylomeDBi | P17302 |
| TreeFami | TF329606 |
Family and domain databases
| Gene3Di | 1.20.1440.80, 1 hit 1.20.5.1130, 1 hit |
| 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 |
| PANTHERi | PTHR11984, PTHR11984, 1 hit PTHR11984:SF33, PTHR11984:SF33, 1 hit |
| Pfami | View protein in Pfam PF00029, Connexin, 1 hit PF03508, Connexin43, 1 hit |
| PRINTSi | PR00206, CONNEXIN PR01132, CONNEXINA1 |
| SMARTi | View protein in SMART SM00037, CNX, 1 hit SM01089, Connexin_CCC, 1 hit |
| SUPFAMi | SSF118220, SSF118220, 1 hit |
| PROSITEi | View protein in PROSITE PS00407, CONNEXINS_1, 1 hit PS00408, CONNEXINS_2, 1 hit |
Sequencei
Sequence statusi: Complete.
Sequence processingi: The displayed sequence is further processed into a mature form.
P17302-1 [UniParc]FASTAAdd to basket
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
Natural variant
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Natural variantiVAR_058990 | 2 | G → V in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_058991 | 7 | L → V in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_075754 | 8 | G → 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_078238 | 11 | L → I in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_058992 | 11 | L → P in ODDD. 2 PublicationsCorresponds to variant dbSNP:rs121912969EnsemblClinVar. | 1 | |
| Natural variantiVAR_015747 | 17 | Y → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893961EnsemblClinVar. | 1 | |
| Natural variantiVAR_015748 | 18 | S → P in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893962EnsemblClinVar. | 1 | |
| Natural variantiVAR_015749 | 21 | G → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893963EnsemblClinVar. | 1 | |
| Natural variantiVAR_015750 | 22 | G → E in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893964EnsemblClinVar. | 1 | |
| Natural variantiVAR_015751 | 23 | K → T in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_038356 | 27 | S → P in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_038357 | 31 | I → M in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_015752 | 40 | A → V in ODDD. 4 PublicationsCorresponds to variant dbSNP:rs1554200992EnsemblClinVar. | 1 | |
| Natural variantiVAR_070439 | 41 – 44 | Missing in ODDD. 1 Publication | 4 | |
| Natural variantiVAR_058993 | 41 | V → 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 Publication | 1 | |
| Natural variantiVAR_075755 | 44 | A → V in EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs794729675EnsemblClinVar. | 1 | |
| Natural variantiVAR_071009 | 47 | D → H in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_015753 | 49 | Q → K in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_058994 | 49 | Q → P in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_058995 | 49 | Q → QQ in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_015754 | 52 | F → FF in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_058996 | 59 | P → H in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_038358 | 69 | S → Y in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_058997 | 76 | R → H in HSS; overlapping features with oculodentodigital dysplasia. 1 PublicationCorresponds to variant dbSNP:rs267606844EnsemblClinVar. | 1 | |
| Natural variantiVAR_015755 | 76 | R → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs267606845EnsemblClinVar. | 1 | |
| Natural variantiVAR_071010 | 86 | S → Y in ODDD; de novo mutation found in a sporadic case. 1 Publication | 1 | |
| Natural variantiVAR_015756 | 90 | L → V in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_058998 | 95 | H → R in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_058999 | 96 | V → A in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_059000 | 96 | V → E in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_059001 | 96 | V → M in ODDD. 1 PublicationCorresponds to variant dbSNP:rs28931601EnsemblClinVar. | 1 | |
| Natural variantiVAR_015757 | 98 | Y → C in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_015758 | 102 | K → N in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1554201011EnsemblClinVar. | 1 | |
| Natural variantiVAR_059002 | 106 | L → P in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_071011 | 106 | L → R in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_059003 | 110 | E → D in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_038359 | 113 | L → P in ODDD. 2 Publications | 1 | |
| Natural variantiVAR_015759 | 130 | I → T in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1554201017EnsemblClinVar. | 1 | |
| Natural variantiVAR_015760 | 134 | K → E in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_038360 | 134 | K → N in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_015761 | 138 | G → R in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_038361 | 143 | G → S in SDTY3. 1 PublicationCorresponds to variant dbSNP:rs28931600EnsemblClinVar. | 1 | |
| Natural variantiVAR_059004 | 147 | M → T in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1057518872EnsemblClinVar. | 1 | |
| Natural variantiVAR_014095 | 148 | R → Q in ODDD. 1 PublicationCorresponds to variant dbSNP:rs962041031EnsemblClinVar. | 1 | |
| Natural variantiVAR_059005 | 154 | T → A in ODDD. 2 Publications | 1 | |
| Natural variantiVAR_059006 | 154 | T → N in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_014096 | 168 | A → T. Corresponds to variant dbSNP:rs2228961Ensembl. | 1 | |
| Natural variantiVAR_059007 | 169 | Missing in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_059008 | 194 | H → 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_059009 | 201 | S → F in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_015762 | 202 | R → H in ODDD. 3 PublicationsCorresponds to variant dbSNP:rs750294638EnsemblClinVar. | 1 | |
| Natural variantiVAR_070440 | 206 | K → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs397518464EnsemblClinVar. | 1 | |
| Natural variantiVAR_015763 | 216 | V → L in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1554201043EnsemblClinVar. | 1 | |
| Natural variantiVAR_059010 | 220 | S → Y in ODDD. 1 Publication | 1 | |
| Natural variantiVAR_075756 | 227 | E → D in EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs875989815EnsemblClinVar. | 1 | |
| Natural variantiVAR_070441 | 239 | R → Q in CMDR. 1 PublicationCorresponds to variant dbSNP:rs764670582EnsemblClinVar. | 1 | |
| Natural variantiVAR_014100 | 239 | R → W in congenital heart malformations. 1 Publication | 1 | |
| Natural variantiVAR_059011 | 251 | S → T in congenital heart malformations. 1 Publication | 1 | |
| Natural variantiVAR_059012 | 253 | A → P in congenital heart malformations. 1 Publication | 1 | |
| Natural variantiVAR_015764 | 253 | A → V1 PublicationCorresponds to variant dbSNP:rs17653265EnsemblClinVar. | 1 | |
| Natural variantiVAR_014101 | 283 | P → L in congenital heart malformations. 1 Publication | 1 | |
| Natural variantiVAR_014102 | 290 | T → N in congenital heart malformations. 1 Publication | 1 | |
| Natural variantiVAR_059013 | 326 | T → A1 Publication | 1 | |
| Natural variantiVAR_059014 | 352 | E → G in heart malformations. 1 Publication | 1 | |
| Natural variantiVAR_032924 | 362 | R → 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_059015 | 364 | S → P in heart malformations; shows abnormalities in the regulation of cell-cell communication as compared with cells expressing normal GJA1. 1 Publication | 1 | |
| Natural variantiVAR_059016 | 365 | S → N in heart malformations. 1 Publication | 1 | |
| Natural variantiVAR_059017 | 373 | S → G1 Publication | 1 | |
| Natural variantiVAR_032925 | 376 | R → 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: 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 |
| CCDSi | CCDS5123.1 |
| PIRi | A35853 |
| RefSeqi | NP_000156.1, NM_000165.4 |
Genome annotation databases
| Ensembli | ENST00000282561; ENSP00000282561; ENSG00000152661 ENST00000647564; ENSP00000497565; ENSG00000152661 ENST00000649003; ENSP00000497283; ENSG00000152661 ENST00000650427; ENSP00000497367; ENSG00000152661 |
| GeneIDi | 2697 |
| KEGGi | hsa:2697 |
| UCSCi | uc003pyr.4, human |
Similar proteinsi
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 |
| CCDSi | CCDS5123.1 |
| PIRi | A35853 |
| RefSeqi | NP_000156.1, NM_000165.4 |
3D structure databases
| Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
| 2LL2 | NMR | - | A | 234-259 | [»] | |
| BMRBi | P17302 | |||||
| SMRi | P17302 | |||||
| ModBasei | Search... | |||||
| PDBe-KBi | Search... | |||||
Protein-protein interaction databases
| BioGRIDi | 108964, 99 interactors |
| IntActi | P17302, 46 interactors |
| MINTi | P17302 |
| STRINGi | 9606.ENSP00000282561 |
Chemistry databases
| DrugBanki | DB01136, Carvedilol |
PTM databases
| iPTMneti | P17302 |
| PhosphoSitePlusi | P17302 |
Genetic variation databases
| BioMutai | GJA1 |
| DMDMi | 117706 |
Proteomic databases
| EPDi | P17302 |
| jPOSTi | P17302 |
| MassIVEi | P17302 |
| MaxQBi | P17302 |
| PaxDbi | P17302 |
| PeptideAtlasi | P17302 |
| PRIDEi | P17302 |
| ProteomicsDBi | 53467 |
| TopDownProteomicsi | P17302 |
Protocols and materials databases
| Antibodypediai | 4382, 1190 antibodies |
| DNASUi | 2697 |
Genome annotation databases
| Ensembli | ENST00000282561; ENSP00000282561; ENSG00000152661 ENST00000647564; ENSP00000497565; ENSG00000152661 ENST00000649003; ENSP00000497283; ENSG00000152661 ENST00000650427; ENSP00000497367; ENSG00000152661 |
| GeneIDi | 2697 |
| KEGGi | hsa:2697 |
| UCSCi | uc003pyr.4, human |
Organism-specific databases
| CTDi | 2697 |
| DisGeNETi | 2697 |
| GeneCardsi | GJA1 |
| HGNCi | HGNC:4274, GJA1 |
| HPAi | ENSG00000152661, Low tissue specificity |
| MalaCardsi | GJA1 |
| MIMi | 104100, phenotype 121014, gene 164200, phenotype 186100, phenotype 218400, phenotype 234100, phenotype 241550, phenotype 257850, phenotype 600309, phenotype 617525, phenotype |
| neXtProti | NX_P17302 |
| OpenTargetsi | ENSG00000152661 |
| 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 |
| PharmGKBi | PA28685 |
| VEuPathDBi | HostDB:ENSG00000152661.7 |
| GenAtlasi | Search... |
Phylogenomic databases
| eggNOGi | ENOG502QRAE, Eukaryota |
| GeneTreei | ENSGT00990000203503 |
| HOGENOMi | CLU_037388_0_0_1 |
| InParanoidi | P17302 |
| OMAi | LVIQWYM |
| OrthoDBi | 519426at2759 |
| PhylomeDBi | P17302 |
| TreeFami | TF329606 |
Enzyme and pathway databases
| PathwayCommonsi | P17302 |
| 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 |
| SignaLinki | P17302 |
| SIGNORi | P17302 |
Miscellaneous databases
| BioGRID-ORCSi | 2697, 26 hits in 958 CRISPR screens |
| ChiTaRSi | GJA1, human |
| GeneWikii | GJA1 |
| GenomeRNAii | 2697 |
| Pharosi | P17302, Tbio |
| PROi | PR:P17302 |
| RNActi | P17302, protein |
| SOURCEi | Search... |
Gene expression databases
| Bgeei | ENSG00000152661, Expressed in pigmented layer of retina and 245 other tissues |
| Genevisiblei | P17302, HS |
Family and domain databases
| Gene3Di | 1.20.1440.80, 1 hit 1.20.5.1130, 1 hit |
| 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 |
| PANTHERi | PTHR11984, PTHR11984, 1 hit PTHR11984:SF33, PTHR11984:SF33, 1 hit |
| Pfami | View protein in Pfam PF00029, Connexin, 1 hit PF03508, Connexin43, 1 hit |
| PRINTSi | PR00206, CONNEXIN PR01132, CONNEXINA1 |
| SMARTi | View protein in SMART SM00037, CNX, 1 hit SM01089, Connexin_CCC, 1 hit |
| SUPFAMi | SSF118220, SSF118220, 1 hit |
| PROSITEi | View protein in PROSITE PS00407, CONNEXINS_1, 1 hit PS00408, CONNEXINS_2, 1 hit |
| ProtoNeti | Search... |
| MobiDBi | Search... |
Entry informationi
| Entry namei | CXA1_HUMAN | |
| Accessioni | P17302Primary (citable) accession number: P17302 Secondary accession number(s): B2R5U9, Q6FHU1, Q9Y5I8 | |
| Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 1, 1990 |
| Last sequence update: | January 23, 2007 | |
| Last modified: | April 7, 2021 | |
| This is version 246 of the entry and version 2 of the sequence. See complete history. | ||
| Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
| Annotation program | Chordata Protein Annotation Program | |
| Disclaimer | Any 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. | |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families
