MGP Database

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MGP001208

UniProt Annotations

Entry Information
Gene Namegap junction protein, alpha 1, 43kDa
Protein EntryCXA1_HUMAN
UniProt IDP17302
SpeciesHuman
Comments
Comment typeDescription
CautionPubMed: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. {ECO:0000305|PubMed:12457340}.
CautionPubMed:7715640 reported a mutation Pro-364 linked to congenital heart diseases. PubMed:8873667 later shown that it is an artifact. {ECO:0000305}.
DiseaseAtrioventricular septal defect 3 (AVSD3) [MIM:600309]: 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. {ECO:0000269|PubMed:11470490}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCraniometaphyseal dysplasia, autosomal recessive (CMDR) [MIM:218400]: 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. {ECO:0000269|PubMed:23951358}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseHallermann-Streiff syndrome (HSS) [MIM:234100]: 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. {ECO:0000269|PubMed:14974090}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseHypoplastic left heart syndrome 1 (HLHS1) [MIM:241550]: 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. {ECO:0000269|PubMed:11470490}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseOculodentodigital dysplasia, autosomal recessive (ODDD- AR) [MIM:257850]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseOculodentodigital dysplasia (ODDD) [MIM:164200]: 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. {ECO:0000269|PubMed:12457340, ECO:0000269|PubMed:14729836, ECO:0000269|PubMed:15108203, ECO:0000269|PubMed:15637728, ECO:0000269|PubMed:16219735, ECO:0000269|PubMed:16222672, ECO:0000269|PubMed:16378922, ECO:0000269|PubMed:16709485, ECO:0000269|PubMed:16813608, ECO:0000269|PubMed:16816024, ECO:0000269|PubMed:17509830, ECO:0000269|PubMed:18161618, ECO:0000269|PubMed:19338053, ECO:0000269|PubMed:21670345, ECO:0000269|PubMed:23550541, ECO:0000269|PubMed:24508941}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseSyndactyly 3 (SDTY3) [MIM:186100]: 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. {ECO:0000269|PubMed:14729836}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
FunctionGap 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). {ECO:0000250}.
InteractionQ02487-1:DSC2; NbExp=2; IntAct=EBI-1103439, EBI-6900677; Q07157:TJP1; NbExp=3; IntAct=EBI-1103439, EBI-79553;
PtmPhosphorylated 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. {ECO:0000250, ECO:0000269|PubMed:12270943, ECO:0000269|PubMed:14702389, ECO:0000269|PubMed:15605363, ECO:0000269|PubMed:21406692}.
PtmS-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.
PtmSumoylated 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. {ECO:0000269|PubMed:22411987}.
SimilarityBelongs to the connexin family. Alpha-type (group II) subfamily. {ECO:0000305}.
Subcellular LocationCell membrane {ECO:0000269|PubMed:22411987}; Multi-pass membrane protein {ECO:0000269|PubMed:22411987}. Cell junction, gap junction {ECO:0000269|PubMed:22411987}.
SubunitA connexon is composed of a hexamer of connexins. Interacts (via C-terminus) with TJP1. Interacts (via C-terminus) with SRC (via SH3 domain). Interacts with UBQLN4 (By similarity). Interacts with SGSM3. Interacts with RIC1/CIP150. Interacts with CNST and CSNK1D. {ECO:0000250, ECO:0000269|PubMed:12270943, ECO:0000269|PubMed:16112082}.
Tissue SpecificityExpressed in the heart and fetal cochlea. {ECO:0000269|PubMed:11741837}.
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