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-tubulin binding Source: Ensembl
- connexin binding Source: Ensembl
- disordered domain specific binding Source: Ensembl
- 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
- ion transmembrane transporter activity Source: BHF-UCL
- PDZ domain binding Source: Ensembl
- protein tyrosine kinase binding Source: Ensembl
- scaffold protein binding Source: Ensembl
- SH3 domain binding Source: Ensembl
- signaling receptor binding Source: Ensembl
- tubulin binding Source: UniProtKB
GO - Biological processi
- adult heart development Source: Ensembl
- apoptotic process Source: Ensembl
- ATP transport Source: Ensembl
- atrial cardiac muscle cell action potential Source: BHF-UCL
- atrial ventricular junction remodeling Source: Ensembl
- blood vessel morphogenesis Source: Ensembl
- bone development Source: UniProtKB
- bone remodeling Source: UniProtKB
- cell-cell signaling Source: BHF-UCL
- cell communication by chemical coupling Source: Ensembl
- cell communication by electrical coupling Source: BHF-UCL
- cell communication by electrical coupling involved in cardiac conduction Source: BHF-UCL
- cellular response to mechanical stimulus Source: Ensembl
- cellular response to parathyroid hormone stimulus Source: Ensembl
- cellular response to pH Source: Ensembl
- chronic inflammatory response Source: Ensembl
- decidualization Source: Ensembl
- embryonic digit morphogenesis Source: Ensembl
- endothelium development Source: Ensembl
- epididymis development Source: Ensembl
- epithelial cell maturation Source: Ensembl
- gap junction assembly Source: UniProtKB
- heart development Source: ProtInc
- heart looping Source: Ensembl
- in utero embryonic development Source: Ensembl
- ion transmembrane transport Source: BHF-UCL
- lens development in camera-type eye Source: Ensembl
- male gonad development Source: Ensembl
- microtubule-based transport Source: UniProtKB
- milk ejection reflex Source: Ensembl
- muscle contraction Source: ProtInc
- 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 gene expression Source: Ensembl
- negative regulation of wound healing Source: Ensembl
- neuron migration Source: Ensembl
- neuron projection morphogenesis Source: Ensembl
- osteoblast differentiation Source: Ensembl
- positive regulation of behavioral fear response Source: Ensembl
- positive regulation of blood vessel diameter 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: Ensembl
- 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 osteoblast differentiation Source: Ensembl
- positive regulation of protein catabolic process Source: Ensembl
- positive regulation of striated muscle tissue development Source: Ensembl
- positive regulation of vasoconstriction Source: Ensembl
- protein complex oligomerization Source: Ensembl
- regulation of apoptotic process Source: Ensembl
- regulation of atrial cardiac muscle cell membrane depolarization Source: Ensembl
- regulation of bicellular tight junction assembly Source: Ensembl
- regulation of bone mineralization Source: Ensembl
- regulation of bone remodeling Source: Ensembl
- regulation of calcium ion transport Source: Ensembl
- regulation of transmembrane transporter activity Source: Ensembl
- regulation of ventricular cardiac muscle cell membrane depolarization Source: Ensembl
- regulation of ventricular cardiac muscle cell membrane repolarization 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 retinoic acid Source: Ensembl
- signal transduction Source: BHF-UCL
- skeletal muscle tissue regeneration Source: Ensembl
- spermatogenesis Source: UniProtKB
- T cell proliferation Source: Ensembl
- vascular transport Source: Ensembl
Enzyme and pathway databases
| 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 |
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
Cytoskeleton
- intermediate filament Source: Ensembl
Cytosol
- cytosol Source: Ensembl
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
- lateral plasma membrane Source: Ensembl
- plasma membrane Source: UniProtKB
Other locations
- cell junction Source: UniProtKB
- contractile fiber Source: Ensembl
- cytoplasm Source: UniProtKB
- 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
Topology
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| Topological domaini | 1 – 13 | CytoplasmicSequence analysisAdd BLAST | 13 | |
| Transmembranei | 14 – 36 | HelicalSequence analysisAdd BLAST | 23 | |
| Topological domaini | 37 – 76 | ExtracellularSequence analysisAdd BLAST | 40 | |
| Transmembranei | 77 – 99 | HelicalSequence analysisAdd BLAST | 23 | |
| Topological domaini | 100 – 154 | CytoplasmicSequence analysisAdd BLAST | 55 | |
| Transmembranei | 155 – 177 | HelicalSequence analysisAdd BLAST | 23 | |
| Topological domaini | 178 – 208 | ExtracellularSequence analysisAdd BLAST | 31 | |
| Transmembranei | 209 – 231 | HelicalSequence analysisAdd BLAST | 23 | |
| Topological domaini | 232 – 382 | CytoplasmicSequence analysisAdd BLAST | 151 |
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 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 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 Publications | 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 Publication | 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 Publication | 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 Publication | 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 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 OMIMSyndactyly 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 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 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 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 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 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 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 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 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 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 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 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 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 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 mutation, 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 |
Chemistry databases
| DrugBanki | DB01136 Carvedilol |
Polymorphism and mutation databases
| BioMutai | GJA1 |
| DMDMi | 117706 |
PTM / Processingi
Molecule processing
| Feature key | Position(s) | DescriptionActions | Graphical view | Length |
|---|---|---|---|---|
| ChainiPRO_0000057801 | 1 – 382 | Gap junction alpha-1 proteinAdd BLAST | 382 |
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.
Keywords - PTMi
Disulfide bond, Isopeptide bond, Phosphoprotein, S-nitrosylation, Ubl conjugationProteomic databases
| EPDi | P17302 |
| jPOSTi | 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 236 organ(s), highest expression level in pigmented layer of retina |
| Genevisiblei | P17302 HS |
Organism-specific databases
| HPAi | CAB010753 HPA035097 HPA047551 HPA069245 |
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 Publications
Binary interactionsi
GO - Molecular functioni
- alpha-tubulin binding Source: UniProtKB
- beta-tubulin binding Source: Ensembl
- connexin binding Source: Ensembl
- disordered domain specific binding Source: Ensembl
- PDZ domain binding Source: Ensembl
- protein tyrosine kinase binding Source: Ensembl
- scaffold protein binding Source: Ensembl
- SH3 domain binding Source: Ensembl
- signaling receptor binding Source: Ensembl
- tubulin binding Source: UniProtKB
Protein-protein interaction databases
| BioGridi | 108964, 68 interactors |
| IntActi | P17302, 25 interactors |
| MINTi | P17302 |
| STRINGi | 9606.ENSP00000282561 |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
| SMRi | P17302 |
| ModBasei | Search... |
| MobiDBi | 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 | ENOG410IF97 Eukaryota ENOG4110JTW LUCA |
| GeneTreei | ENSGT00960000186643 |
| HOGENOMi | HOG000231127 |
| InParanoidi | P17302 |
| KOi | K07372 |
| OMAi | GANVDMH |
| 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.
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 Publications | 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 Publication | 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 Publication | 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 Publication | 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
Keywords - Coding sequence diversityi
PolymorphismSimilar 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 | [»] | |
| SMRi | P17302 | |||||
| ModBasei | Search... | |||||
| MobiDBi | Search... | |||||
Protein-protein interaction databases
| BioGridi | 108964, 68 interactors |
| IntActi | P17302, 25 interactors |
| MINTi | P17302 |
| STRINGi | 9606.ENSP00000282561 |
Chemistry databases
| DrugBanki | DB01136 Carvedilol |
PTM databases
| iPTMneti | P17302 |
| PhosphoSitePlusi | P17302 |
Polymorphism and mutation databases
| BioMutai | GJA1 |
| DMDMi | 117706 |
Proteomic databases
| EPDi | P17302 |
| jPOSTi | P17302 |
| MaxQBi | P17302 |
| PaxDbi | P17302 |
| PeptideAtlasi | P17302 |
| PRIDEi | P17302 |
| ProteomicsDBi | 53467 |
| TopDownProteomicsi | P17302 |
Protocols and materials databases
| DNASUi | 2697 |
| Structural Biology Knowledgebase | Search... |
Genome annotation databases
Organism-specific databases
| CTDi | 2697 |
| DisGeNETi | 2697 |
| GeneCardsi | GJA1 |
| HGNCi | HGNC:4274 GJA1 |
| HPAi | CAB010753 HPA035097 HPA047551 HPA069245 |
| 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 |
| GenAtlasi | Search... |
Phylogenomic databases
| eggNOGi | ENOG410IF97 Eukaryota ENOG4110JTW LUCA |
| GeneTreei | ENSGT00960000186643 |
| HOGENOMi | HOG000231127 |
| InParanoidi | P17302 |
| KOi | K07372 |
| OMAi | GANVDMH |
| OrthoDBi | 519426at2759 |
| PhylomeDBi | P17302 |
| TreeFami | TF329606 |
Enzyme and pathway databases
| 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
| ChiTaRSi | GJA1 human |
| GeneWikii | GJA1 |
| GenomeRNAii | 2697 |
| PROi | PR:P17302 |
| SOURCEi | Search... |
Gene expression databases
| Bgeei | ENSG00000152661 Expressed in 236 organ(s), highest expression level in pigmented layer of retina |
| 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... |
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: | June 5, 2019 | |
| This is version 232 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, Complete proteome, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
