Entity Details

Primary name CXA1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP17302
EntryNameCXA1_HUMAN
FullNameGap junction alpha-1 protein
TaxID9606
Evidenceevidence at protein level
Length382
SequenceStatuscomplete
DateCreated1990-08-01
DateModified2021-06-02

Ontological Relatives

GenesGJA1

GO terms

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GOName
GO:0000132 establishment of mitotic spindle orientation
GO:0000139 Golgi membrane
GO:0001937 negative regulation of endothelial cell proliferation
GO:0002544 chronic inflammatory response
GO:0002931 response to ischemia
GO:0003104 positive regulation of glomerular filtration
GO:0003158 endothelium development
GO:0003161 cardiac conduction system development
GO:0005243 gap junction channel activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005741 mitochondrial outer membrane
GO:0005764 lysosome
GO:0005769 early endosome
GO:0005771 multivesicular body
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005916 fascia adherens
GO:0005921 gap junction
GO:0005922 connexin complex
GO:0005925 focal adhesion
GO:0006915 apoptotic process
GO:0007165 signal transduction
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007267 cell-cell signaling
GO:0007283 spermatogenesis
GO:0008013 beta-catenin binding
GO:0009268 response to pH
GO:0009749 response to glucose
GO:0010232 vascular transport
GO:0010628 positive regulation of gene expression
GO:0010644 cell communication by electrical coupling
GO:0010649 regulation of cell communication by electrical coupling
GO:0010652 positive regulation of cell communication by chemical coupling
GO:0014047 glutamate secretion
GO:0014704 intercalated disc
GO:0015075 ion transmembrane transporter activity
GO:0015562 efflux transmembrane transporter activity
GO:0015631 tubulin binding
GO:0015867 ATP transport
GO:0016264 gap junction assembly
GO:0016324 apical plasma membrane
GO:0017124 SH3 domain binding
GO:0022898 regulation of transmembrane transporter activity
GO:0030054 cell junction
GO:0030165 PDZ domain binding
GO:0030308 negative regulation of cell growth
GO:0030660 Golgi-associated vesicle membrane
GO:0032024 positive regulation of insulin secretion
GO:0032277 negative regulation of gonadotropin secretion
GO:0032355 response to estradiol
GO:0032496 response to lipopolysaccharide
GO:0032526 response to retinoic acid
GO:0034220 ion transmembrane transport
GO:0034405 response to fluid shear stress
GO:0034613 cellular protein localization
GO:0034634 glutathione transmembrane transporter activity
GO:0035437 maintenance of protein localization in endoplasmic reticulum
GO:0035633 maintenance of blood-brain barrier
GO:0042908 xenobiotic transport
GO:0042981 regulation of apoptotic process
GO:0043014 alpha-tubulin binding
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0043231 intracellular membrane-bounded organelle
GO:0043434 response to peptide hormone
GO:0044291 cell-cell contact zone
GO:0045121 membrane raft
GO:0045732 positive regulation of protein catabolic process
GO:0045907 positive regulation of vasoconstriction
GO:0046697 decidualization
GO:0046849 bone remodeling
GO:0048812 neuron projection morphogenesis
GO:0051924 regulation of calcium ion transport
GO:0055077 gap junction hemi-channel activity
GO:0060044 negative regulation of cardiac muscle cell proliferation
GO:0060348 bone development
GO:0061045 negative regulation of wound healing
GO:0070160 tight junction
GO:0071253 connexin binding
GO:0071260 cellular response to mechanical stimulus
GO:0071374 cellular response to parathyroid hormone stimulus
GO:0086014 atrial cardiac muscle cell action potential
GO:0086064 cell communication by electrical coupling involved in cardiac conduction
GO:0086075 gap junction channel activity involved in cardiac conduction electrical coupling
GO:0097718 disordered domain specific binding
GO:0099111 microtubule-based transport
GO:0120162 positive regulation of cold-induced thermogenesis
GO:0140115 export across plasma membrane
GO:1901164 negative regulation of trophoblast cell migration
GO:1903763 gap junction channel activity involved in cell communication by electrical coupling
GO:1904646 cellular response to amyloid-beta
GO:1904707 positive regulation of vascular associated smooth muscle cell proliferation
GO:1905332 positive regulation of morphogenesis of an epithelium
GO:1905772 positive regulation of mesodermal cell differentiation
GO:1905867 epididymis development
GO:2000279 negative regulation of DNA biosynthetic process
GO:2000648 positive regulation of stem cell proliferation
GO:2000810 regulation of bicellular tight junction assembly
GO:2000987 positive regulation of behavioral fear response

Subcellular Location

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Subcellular Location
Cell junction
Cell membrane
Endoplasmic reticulum

Domains

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DomainNameCategoryType
IPR000500 ConnexinFamilyFamily
IPR002261 Gap junction alpha-1 protein (Cx43)FamilyFamily
IPR013092 Connexin, N-terminalDomainDomain
IPR013124 Gap junction alpha-1 protein (Cx43), C-terminalDomainDomain
IPR017990 Connexin, conserved siteSiteConserved site
IPR019570 Gap junction protein, cysteine-rich domainDomainDomain
IPR034634 Connexin, C-terminalFamilyHomologous superfamily
IPR035091 Gap junction alpha-1 protein (Cx43), alpha helix domain superfamilyFamilyHomologous superfamily
IPR038359 Connexin, N-terminal domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
164200 OMIMOculodentodigital dysplasia (ODDD)A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances. The disease is caused by variants affecting the gene represented in this entry.
104100 OMIMPalmoplantar keratoderma and congenital alopecia 1 (PPKCA1)A rare autosomal dominant disorder characterized by severe hyperkeratosis of the palms and soles, and congenital hypotrichosis or alopecia. Dystrophic nail changes occur in some patients. The disease is caused by variants affecting the gene represented in this entry.
218400 OMIMCraniometaphyseal dysplasia, autosomal recessive (CMDR)An osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy. The disease is caused by variants affecting the gene represented in this entry.
234100 OMIMHallermann-Streiff syndrome (HSS)A disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases. The disease is caused by variants affecting the gene represented in this entry.
600309 OMIMAtrioventricular septal defect 3 (AVSD3)A 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. The disease is caused by variants affecting the gene represented in this entry.
617525 OMIMErythrokeratodermia variabilis et progressiva 3 (EKVP3)A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases. The disease is caused by variants affecting the gene represented in this entry.
257850 OMIMOculodentodigital dysplasia, autosomal recessive (ODDD-AR)A disease characterized by a typical facial appearance and variable involvement of the eyes, dentition, and fingers. Characteristic facial features include a narrow, pinched nose with hypoplastic alae nasi, prominent columella and thin anteverted nares together with a narrow nasal bridge, and prominent epicanthic folds giving the impression of hypertelorism. The teeth are usually small and carious. Typical eye findings include microphthalmia and microcornea. The characteristic digital malformation is complete syndactyly of the fourth and fifth fingers (syndactyly type III) but the third finger may be involved and associated camptodactyly is a common finding. Cardiac abnormalities are observed in rare instances. The disease is caused by variants affecting the gene represented in this entry.
241550 OMIMHypoplastic left heart syndrome 1 (HLHS1)A syndrome due to defective development of the aorta proximal to the entrance of the ductus arteriosus, and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged. The disease is caused by variants affecting the gene represented in this entry.
186100 OMIMSyndactyly 3 (SDTY3)A form of syndactyly, a congenital anomaly of the hand or foot marked by persistence of the webbing between adjacent digits that are more or less completely attached. In SDTY3, there is usually complete and bilateral syndactyly between the fourth and fifth fingers. Usually it is soft tissue syndactyly but occasionally the distal phalanges are fused. The fifth finger is short with absent or rudimentary middle phalanx. The feet are not affected. The disease may be caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB01136 CarvedilolDrugbanksmall molecule

Interactions

52 interactions

InteractorPartnerSourcesPublicationsLink
CXA1_HUMANCSK_HUMANHPRD, MINT11035005 details
CXA1_HUMANZO1_HUMANBioGRID, HPRD, IntAct, MINT16944923 9707407 details
CXA1_HUMANPLPP4_HUMANBioGRID, IntAct32296183 details
CXA1_HUMANNINJ2_HUMANBioGRID, IntAct32296183 details
CXA1_HUMANTM86B_HUMANBioGRID, IntAct32296183 details
CXA1_HUMANTM128_HUMANBioGRID, IntAct32296183 details
CXA1_HUMANCREB3_HUMANBioGRID, IntAct25910212 31515488 details
CXA1_HUMAN5HT2C_HUMANBioGRID, MINT28298427 details
CXA1_HUMANARFG3_HUMANBioGRID, IntAct32814053 34079125 details
CXA1_HUMANKC1D_HUMANBioGRID, HPRD, IntAct12270943 32814053 details
CXA1_HUMANCA216_HUMANIntAct32814053 details
CXA1_HUMANS10A1_HUMANBioGRID, HPRD12804600 details
CXA1_HUMANMK07_HUMANBioGRID, HPRD12637502 8631994 9535905 9535909 details
CXA1_HUMANCAV1_HUMANBioGRID, HPRD11980479 34079125 details
CXA1_HUMANUBQL4_HUMANBioGRID18079109 20940304 24256120 25583071 details
CXA1_HUMANCNST_HUMANBioGRID19864490 details
CXA1_HUMANAKT1_HUMANBioGRID29931708 details
CXA1_HUMANMK01_HUMANBioGRID, HPRD12637502 29931708 8631994 9535905 9535909 details
CXA1_HUMANGBRAP_HUMANBioGRID32272685 details
CXA1_HUMANSGSM3_HUMANHPRD15709751 details
CXA1_HUMANSRC_HUMANHPRD, MINT11035005 11514593 9278444 details
CXA1_HUMANTFCP2_HUMANIntAct20195357 details
CXA1_HUMANDSC2_HUMANBioGRID, IntAct21220045 34079125 details
CXA1_HUMANELP3_HUMANIntAct28507509 details
CXA1_HUMANCXA1_HUMANBioGRID11739633 details
CXA1_HUMANCXA3_HUMANBioGRID, HPRD11739633 details
CXA1_HUMANCXA5_HUMANBioGRID, HPRD11557558 details
CXA1_HUMANKPCA_HUMANBioGRID, HPRD10871288 11273731 details
CXA1_HUMANKPCE_HUMANBioGRID, HPRD10679481 details
CXA1_HUMANNEDD4_HUMANBioGRID19835873 19907029 32272685 details
CXA1_HUMANHGS_HUMANBioGRID19808888 34079125 details
CXA1_HUMANTS101_HUMANBioGRID19808888 details
CXA1_HUMANEPS15_HUMANBioGRID19835873 21554242 25070368 34079125 details
CXA1_HUMANPSMD2_HUMANBioGRID24256120 details
CXA1_HUMANPSMD4_HUMANBioGRID24256120 details
CXA1_HUMANSTABP_HUMANBioGRID25070368 details
CXA1_HUMAN1433T_HUMANBioGRID17008717 details
CXA1_HUMAN1433Z_HUMANBioGRID17008717 details
CXA1_HUMANUBP8_HUMANBioGRID29626091 34079125 details
CXA1_HUMANA16L1_HUMANBioGRID24705551 details
CXA1_HUMANCLH1_HUMANBioGRID24705551 details
CXA1_HUMANATG5_HUMANBioGRID24705551 details
CXA1_HUMANBECN1_HUMANBioGRID24705551 details
CXA1_HUMANPK3C3_HUMANBioGRID24705551 details
CXA1_HUMANPI3R4_HUMANBioGRID24705551 details
CXA1_HUMANBAKOR_HUMANBioGRID24705551 details
CXA1_HUMANMLP3B_HUMANBioGRID32272685 details
CXA1_HUMANSQSTM_HUMANBioGRID32272685 details
CXA1_HUMANCCN3_HUMANHPRD15181016 details
CXA1_HUMANKPCB_HUMANHPRD10871288 details
CXA1_HUMANKPCG_HUMANHPRD10871288 details
CXA1_HUMANMK03_HUMANHPRD12637502 8631994 9535905 9535909 details