UniProtKB - P17302 (CXA1_HUMAN)
Gap junction alpha-1 protein
GJA1
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 similarityCaution
GO - Molecular functioni
- alpha-tubulin binding Source: UniProtKB
- beta-catenin binding Source: ARUK-UCL
- beta-tubulin 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
- protein tyrosine kinase binding Source: Ensembl
- scaffold protein binding Source: Ensembl
- signaling receptor binding Source: Ensembl
- tubulin binding Source: UniProtKB
GO - Biological processi
- adult heart development 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
- cardiac conduction system development Source: BHF-UCL
- 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 protein localization Source: ARUK-UCL
- cellular response to amyloid-beta Source: ARUK-UCL
- cellular response to pH Source: Ensembl
- embryonic digit morphogenesis Source: Ensembl
- epithelial cell maturation 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 looping Source: Ensembl
- in utero embryonic development Source: Ensembl
- ion transmembrane transport Source: BHF-UCL
- lens development in camera-type eye Source: Ensembl
- maintenance of blood-brain barrier Source: ARUK-UCL
- male gonad development Source: Ensembl
- microtubule-based transport Source: UniProtKB
- milk ejection reflex Source: Ensembl
- negative regulation of cell growth Source: UniProtKB
- negative regulation of gene expression Source: Ensembl
- negative regulation of gonadotropin secretion Source: ARUK-UCL
- negative regulation of trophoblast cell migration Source: ARUK-UCL
- neuron migration Source: Ensembl
- osteoblast differentiation Source: Ensembl
- positive regulation of cold-induced thermogenesis Source: YuBioLab
- positive regulation of gene expression Source: ARUK-UCL
- positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
- positive regulation of mesodermal cell differentiation Source: ARUK-UCL
- positive regulation of morphogenesis of an epithelium Source: ARUK-UCL
- positive regulation of stem cell proliferation Source: ARUK-UCL
- positive regulation of striated muscle tissue development Source: Ensembl
- positive regulation of vascular associated smooth muscle cell proliferation Source: ARUK-UCL
- regulation of atrial cardiac muscle cell membrane depolarization Source: Ensembl
- regulation of bone mineralization Source: Ensembl
- regulation of bone remodeling Source: Ensembl
- regulation of ventricular cardiac muscle cell membrane depolarization Source: Ensembl
- regulation of ventricular cardiac muscle cell membrane repolarization Source: Ensembl
- signal transduction Source: BHF-UCL
- skeletal muscle tissue regeneration Source: Ensembl
- spermatogenesis Source: UniProtKB
- T cell proliferation 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 R-HSA-9013406, RHOQ GTPase cycle R-HSA-9013409, RHOJ GTPase cycle |
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 |
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
Golgi apparatus
- Golgi apparatus Source: BHF-UCL
- Golgi membrane Source: Reactome
Mitochondrion
- 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: ARUK-UCL
Other locations
- cell junction Source: UniProtKB
- cell-cell contact zone Source: ARUK-UCL
- contractile fiber Source: Ensembl
- 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
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
Syndactyly 3 (SDTY3)1 Publication
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
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
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
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
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
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
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
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
Gene expression databases
Bgeei | ENSG00000152661, Expressed in pigmented layer of retina and 246 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
P17302
GO - Molecular functioni
- alpha-tubulin binding Source: UniProtKB
- beta-catenin binding Source: ARUK-UCL
- beta-tubulin binding Source: Ensembl
- protein tyrosine kinase binding Source: Ensembl
- scaffold protein binding Source: Ensembl
- signaling receptor binding Source: Ensembl
- tubulin binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 108964, 507 interactors |
IntActi | P17302, 49 interactors |
MINTi | P17302 |
STRINGi | 9606.ENSP00000282561 |
Miscellaneous databases
RNActi | P17302, protein |
Structurei
Secondary structure
3D 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 | |
Regioni | 317 – 382 | DisorderedSequence analysisAdd BLAST | 66 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 317 – 340 | Polar residuesSequence analysisAdd BLAST | 24 |
Sequence similaritiesi
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG502QRAE, Eukaryota |
GeneTreei | ENSGT01040000240437 |
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 |
i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
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 |
MANE-Selecti | ENST00000282561.4; ENSP00000282561.3; NM_000165.5; NP_000156.1 |
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, 507 interactors |
IntActi | P17302, 49 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
ABCDi | P17302, 3 sequenced antibodies |
Antibodypediai | 4382, 1230 antibodies from 49 providers |
DNASUi | 2697 |
Genome annotation databases
Ensembli | ENST00000282561; ENSP00000282561; ENSG00000152661 ENST00000647564; ENSP00000497565; ENSG00000152661 ENST00000649003; ENSP00000497283; ENSG00000152661 ENST00000650427; ENSP00000497367; ENSG00000152661 |
GeneIDi | 2697 |
KEGGi | hsa:2697 |
MANE-Selecti | ENST00000282561.4; ENSP00000282561.3; NM_000165.5; NP_000156.1 |
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 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QRAE, Eukaryota |
GeneTreei | ENSGT01040000240437 |
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 R-HSA-9013406, RHOQ GTPase cycle R-HSA-9013409, RHOJ GTPase cycle |
SignaLinki | P17302 |
SIGNORi | P17302 |
Miscellaneous databases
BioGRID-ORCSi | 2697, 28 hits in 1007 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 246 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 |
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: | February 23, 2022 | |
This is version 249 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