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UniProtKB - P17302 (CXA1_HUMAN)

Protein

Gap junction alpha-1 protein

Gene

GJA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

ReactomeiR-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-191647 c-src mediated regulation of Cx43 function and closure of gap junctions
R-HSA-196025 Formation of annular gap junctions
SignaLinkiP17302
SIGNORiP17302

Names & Taxonomyi

Protein namesi
Recommended name:
Gap junction alpha-1 protein
Alternative name(s):
Connexin-43
Short name:
Cx43
Gap junction 43 kDa heart protein
Gene namesi
Name:GJA1
Synonyms:GJAL
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000152661.7
HGNCiHGNC:4274 GJA1
MIMi121014 gene
neXtProtiNX_P17302

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 13CytoplasmicSequence analysisAdd BLAST13
Transmembranei14 – 36HelicalSequence analysisAdd BLAST23
Topological domaini37 – 76ExtracellularSequence analysisAdd BLAST40
Transmembranei77 – 99HelicalSequence analysisAdd BLAST23
Topological domaini100 – 154CytoplasmicSequence analysisAdd BLAST55
Transmembranei155 – 177HelicalSequence analysisAdd BLAST23
Topological domaini178 – 208ExtracellularSequence analysisAdd BLAST31
Transmembranei209 – 231HelicalSequence analysisAdd BLAST23
Topological domaini232 – 382CytoplasmicSequence analysisAdd BLAST151

Keywords - Cellular componenti

Cell junction, Cell membrane, Endoplasmic reticulum, Gap junction, Membrane

Pathology & 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.
See also OMIM:164200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0589902G → V in ODDD. 1 Publication1
Natural variantiVAR_0589917L → V in ODDD. 1 Publication1
Natural variantiVAR_07823811L → I in ODDD. 1 Publication1
Natural variantiVAR_05899211L → P in ODDD. 2 PublicationsCorresponds to variant dbSNP:rs121912969EnsemblClinVar.1
Natural variantiVAR_01574717Y → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893961EnsemblClinVar.1
Natural variantiVAR_01574818S → P in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893962EnsemblClinVar.1
Natural variantiVAR_01574921G → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893963EnsemblClinVar.1
Natural variantiVAR_01575022G → E in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893964EnsemblClinVar.1
Natural variantiVAR_01575123K → T in ODDD. 1 Publication1
Natural variantiVAR_03835627S → P in ODDD. 1 Publication1
Natural variantiVAR_03835731I → M in ODDD. 1 Publication1
Natural variantiVAR_01575240A → V in ODDD. 4 Publications1
Natural variantiVAR_07043941 – 44Missing in ODDD. 1 Publication4
Natural variantiVAR_07100947D → H in ODDD. 1 Publication1
Natural variantiVAR_01575349Q → K in ODDD. 1 Publication1
Natural variantiVAR_05899449Q → P in ODDD. 1 Publication1
Natural variantiVAR_05899549Q → QQ in ODDD. 1 Publication1
Natural variantiVAR_01575452F → FF in ODDD. 1 Publication1
Natural variantiVAR_05899659P → H in ODDD. 1 Publication1
Natural variantiVAR_03835869S → Y in ODDD. 1 Publication1
Natural variantiVAR_01575576R → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs267606845EnsemblClinVar.1
Natural variantiVAR_07101086S → Y in ODDD; de novo mutation found in a sporadic case. 1 Publication1
Natural variantiVAR_01575690L → V in ODDD. 1 Publication1
Natural variantiVAR_05899895H → R in ODDD. 1 Publication1
Natural variantiVAR_05899996V → A in ODDD. 1 Publication1
Natural variantiVAR_05900096V → E in ODDD. 1 Publication1
Natural variantiVAR_05900196V → M in ODDD. 1 PublicationCorresponds to variant dbSNP:rs28931601EnsemblClinVar.1
Natural variantiVAR_01575798Y → C in ODDD. 1 Publication1
Natural variantiVAR_015758102K → N in ODDD. 1 Publication1
Natural variantiVAR_059002106L → P in ODDD. 1 Publication1
Natural variantiVAR_071011106L → R in ODDD. 1 Publication1
Natural variantiVAR_059003110E → D in ODDD. 1 Publication1
Natural variantiVAR_038359113L → P in ODDD. 2 Publications1
Natural variantiVAR_015759130I → T in ODDD. 1 Publication1
Natural variantiVAR_015760134K → E in ODDD. 1 Publication1
Natural variantiVAR_038360134K → N in ODDD. 1 Publication1
Natural variantiVAR_015761138G → R in ODDD. 1 Publication1
Natural variantiVAR_059004147M → T in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1057518872Ensembl.1
Natural variantiVAR_014095148R → Q in ODDD. 1 PublicationCorresponds to variant dbSNP:rs962041031EnsemblClinVar.1
Natural variantiVAR_059005154T → A in ODDD. 2 Publications1
Natural variantiVAR_059006154T → N in ODDD. 1 Publication1
Natural variantiVAR_059007169Missing in ODDD. 1 Publication1
Natural variantiVAR_059008194H → 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_059009201S → F in ODDD. 1 Publication1
Natural variantiVAR_015762202R → H in ODDD. 3 PublicationsCorresponds to variant dbSNP:rs750294638EnsemblClinVar.1
Natural variantiVAR_070440206K → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs397518464EnsemblClinVar.1
Natural variantiVAR_015763216V → L in ODDD. 1 Publication1
Natural variantiVAR_059010220S → Y in ODDD. 1 Publication1
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.
See also OMIM:257850
Syndactyly 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.
See also OMIM:186100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038361143G → 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.
See also OMIM:241550
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.
See also OMIM:234100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05899776R → 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.
See also OMIM:600309
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.
See also OMIM:218400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070441239R → 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.
See also OMIM:617525
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07575544A → V in EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs794729675EnsemblClinVar.1
Natural variantiVAR_075756227E → 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.
See also OMIM:104100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0757548G → 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 keratoderma

Organism-specific databases

DisGeNETi2697
MalaCardsiGJA1
MIMi104100 phenotype
164200 phenotype
186100 phenotype
218400 phenotype
234100 phenotype
241550 phenotype
257850 phenotype
600309 phenotype
617525 phenotype
OpenTargetsiENSG00000152661
Orphaneti1010 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
PharmGKBiPA28685

Chemistry databases

DrugBankiDB01136 Carvedilol

Polymorphism and mutation databases

BioMutaiGJA1
DMDMi117706

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000578011 – 382Gap junction alpha-1 proteinAdd BLAST382

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei5PhosphoserineBy similarity1
Disulfide bondi54 ↔ 1921 Publication
Cross-linki144Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Disulfide bondi187 ↔ 1981 Publication
Cross-linki237Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)1 Publication
Modified residuei247PhosphotyrosineBy similarity1
Modified residuei255PhosphoserineCombined sources1 Publication1
Modified residuei262Phosphoserine2 Publications1
Modified residuei271S-nitrosocysteineBy similarity1
Modified residuei275PhosphothreonineBy similarity1
Modified residuei306PhosphoserineBy similarity1
Modified residuei314PhosphoserineCombined sources1
Modified residuei325Phosphoserine; by CK11 Publication1
Modified residuei326PhosphothreonineBy similarity1
Modified residuei328Phosphoserine; by CK11 Publication1
Modified residuei330Phosphoserine; by CK11 Publication1
Modified residuei344PhosphoserineCombined sources1
Modified residuei365PhosphoserineBy similarity1
Modified residuei368Phosphoserine; by PKC/PRKCG and PKC/PRKCDBy similarity1
Modified residuei369PhosphoserineBy similarity1
Modified residuei373PhosphoserineBy similarity1

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 conjugation

Proteomic databases

EPDiP17302
MaxQBiP17302
PaxDbiP17302
PeptideAtlasiP17302
PRIDEiP17302
ProteomicsDBi53467
TopDownProteomicsiP17302

PTM databases

iPTMnetiP17302
PhosphoSitePlusiP17302

Expressioni

Tissue specificityi

Expressed in the heart and fetal cochlea.1 Publication

Gene expression databases

BgeeiENSG00000152661 Expressed in 236 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_GJA1
GenevisibleiP17302 HS

Organism-specific databases

HPAiCAB010753
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

Protein-protein interaction databases

BioGridi108964, 63 interactors
IntActiP17302, 20 interactors
MINTiP17302
STRINGi9606.ENSP00000282561

Structurei

Secondary structure

1382
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliP17302
SMRiP17302
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni244 – 382Interaction with NOVBy similarityAdd BLAST139
Regioni264 – 382Interaction with UBQLN4By similarityAdd BLAST119

Sequence similaritiesi

Belongs to the connexin family. Alpha-type (group II) subfamily.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF97 Eukaryota
ENOG4110JTW LUCA
GeneTreeiENSGT00910000143998
HOGENOMiHOG000231127
HOVERGENiHBG009576
InParanoidiP17302
KOiK07372
OMAiGANVDMH
OrthoDBiEOG091G0FKH
PhylomeDBiP17302
TreeFamiTF329606

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
1.20.5.1130, 1 hit
InterProiView 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
PANTHERiPTHR11984 PTHR11984, 1 hit
PTHR11984:SF33 PTHR11984:SF33, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PF03508 Connexin43, 1 hit
PRINTSiPR00206 CONNEXIN
PR01132 CONNEXINA1
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
SUPFAMiSSF118220 SSF118220, 1 hit
PROSITEiView protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit

Sequencei

Sequence statusi: Complete.

P17302-1 [UniParc]FASTAAdd to basket
« Hide
        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
Length:382
Mass (Da):43,008
Last modified:January 23, 2007 - v2
Checksum:i7DDDAD8040284176
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0589902G → V in ODDD. 1 Publication1
Natural variantiVAR_0589917L → V in ODDD. 1 Publication1
Natural variantiVAR_0757548G → 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_07823811L → I in ODDD. 1 Publication1
Natural variantiVAR_05899211L → P in ODDD. 2 PublicationsCorresponds to variant dbSNP:rs121912969EnsemblClinVar.1
Natural variantiVAR_01574717Y → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893961EnsemblClinVar.1
Natural variantiVAR_01574818S → P in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893962EnsemblClinVar.1
Natural variantiVAR_01574921G → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893963EnsemblClinVar.1
Natural variantiVAR_01575022G → E in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893964EnsemblClinVar.1
Natural variantiVAR_01575123K → T in ODDD. 1 Publication1
Natural variantiVAR_03835627S → P in ODDD. 1 Publication1
Natural variantiVAR_03835731I → M in ODDD. 1 Publication1
Natural variantiVAR_01575240A → V in ODDD. 4 Publications1
Natural variantiVAR_07043941 – 44Missing in ODDD. 1 Publication4
Natural variantiVAR_05899341V → 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 Publication1
Natural variantiVAR_07575544A → V in EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs794729675EnsemblClinVar.1
Natural variantiVAR_07100947D → H in ODDD. 1 Publication1
Natural variantiVAR_01575349Q → K in ODDD. 1 Publication1
Natural variantiVAR_05899449Q → P in ODDD. 1 Publication1
Natural variantiVAR_05899549Q → QQ in ODDD. 1 Publication1
Natural variantiVAR_01575452F → FF in ODDD. 1 Publication1
Natural variantiVAR_05899659P → H in ODDD. 1 Publication1
Natural variantiVAR_03835869S → Y in ODDD. 1 Publication1
Natural variantiVAR_05899776R → H in HSS; overlapping features with oculodentodigital dysplasia. 1 PublicationCorresponds to variant dbSNP:rs267606844EnsemblClinVar.1
Natural variantiVAR_01575576R → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs267606845EnsemblClinVar.1
Natural variantiVAR_07101086S → Y in ODDD; de novo mutation found in a sporadic case. 1 Publication1
Natural variantiVAR_01575690L → V in ODDD. 1 Publication1
Natural variantiVAR_05899895H → R in ODDD. 1 Publication1
Natural variantiVAR_05899996V → A in ODDD. 1 Publication1
Natural variantiVAR_05900096V → E in ODDD. 1 Publication1
Natural variantiVAR_05900196V → M in ODDD. 1 PublicationCorresponds to variant dbSNP:rs28931601EnsemblClinVar.1
Natural variantiVAR_01575798Y → C in ODDD. 1 Publication1
Natural variantiVAR_015758102K → N in ODDD. 1 Publication1
Natural variantiVAR_059002106L → P in ODDD. 1 Publication1
Natural variantiVAR_071011106L → R in ODDD. 1 Publication1
Natural variantiVAR_059003110E → D in ODDD. 1 Publication1
Natural variantiVAR_038359113L → P in ODDD. 2 Publications1
Natural variantiVAR_015759130I → T in ODDD. 1 Publication1
Natural variantiVAR_015760134K → E in ODDD. 1 Publication1
Natural variantiVAR_038360134K → N in ODDD. 1 Publication1
Natural variantiVAR_015761138G → R in ODDD. 1 Publication1
Natural variantiVAR_038361143G → S in SDTY3. 1 PublicationCorresponds to variant dbSNP:rs28931600EnsemblClinVar.1
Natural variantiVAR_059004147M → T in ODDD. 1 PublicationCorresponds to variant dbSNP:rs1057518872Ensembl.1
Natural variantiVAR_014095148R → Q in ODDD. 1 PublicationCorresponds to variant dbSNP:rs962041031EnsemblClinVar.1
Natural variantiVAR_059005154T → A in ODDD. 2 Publications1
Natural variantiVAR_059006154T → N in ODDD. 1 Publication1
Natural variantiVAR_014096168A → T. Corresponds to variant dbSNP:rs2228961Ensembl.1
Natural variantiVAR_059007169Missing in ODDD. 1 Publication1
Natural variantiVAR_059008194H → 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_059009201S → F in ODDD. 1 Publication1
Natural variantiVAR_015762202R → H in ODDD. 3 PublicationsCorresponds to variant dbSNP:rs750294638EnsemblClinVar.1
Natural variantiVAR_070440206K → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs397518464EnsemblClinVar.1
Natural variantiVAR_015763216V → L in ODDD. 1 Publication1
Natural variantiVAR_059010220S → Y in ODDD. 1 Publication1
Natural variantiVAR_075756227E → D in EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs875989815EnsemblClinVar.1
Natural variantiVAR_070441239R → Q in CMDR. 1 PublicationCorresponds to variant dbSNP:rs764670582EnsemblClinVar.1
Natural variantiVAR_014100239R → W in congenital heart malformations. 1 Publication1
Natural variantiVAR_059011251S → T in congenital heart malformations. 1 Publication1
Natural variantiVAR_059012253A → P in congenital heart malformations. 1 Publication1
Natural variantiVAR_015764253A → V1 PublicationCorresponds to variant dbSNP:rs17653265EnsemblClinVar.1
Natural variantiVAR_014101283P → L in congenital heart malformations. 1 Publication1
Natural variantiVAR_014102290T → N in congenital heart malformations. 1 Publication1
Natural variantiVAR_059013326T → A1 Publication1
Natural variantiVAR_059014352E → G in heart malformations. 1 Publication1
Natural variantiVAR_032924362R → 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_059015364S → P in heart malformations; shows abnormalities in the regulation of cell-cell communication as compared with cells expressing normal GJA1. 1 Publication1
Natural variantiVAR_059016365S → N in heart malformations. 1 Publication1
Natural variantiVAR_059017373S → G1 Publication1
Natural variantiVAR_032925376R → 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
CCDSiCCDS5123.1
PIRiA35853
RefSeqiNP_000156.1, NM_000165.4
UniGeneiHs.700699
Hs.74471

Genome annotation databases

EnsembliENST00000282561; ENSP00000282561; ENSG00000152661
GeneIDi2697
KEGGihsa:2697
UCSCiuc003pyr.4 human

Keywords - Coding sequence diversityi

Polymorphism

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
CCDSiCCDS5123.1
PIRiA35853
RefSeqiNP_000156.1, NM_000165.4
UniGeneiHs.700699
Hs.74471

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2LL2NMR-A234-259[»]
ProteinModelPortaliP17302
SMRiP17302
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi108964, 63 interactors
IntActiP17302, 20 interactors
MINTiP17302
STRINGi9606.ENSP00000282561

Chemistry databases

DrugBankiDB01136 Carvedilol

PTM databases

iPTMnetiP17302
PhosphoSitePlusiP17302

Polymorphism and mutation databases

BioMutaiGJA1
DMDMi117706

Proteomic databases

EPDiP17302
MaxQBiP17302
PaxDbiP17302
PeptideAtlasiP17302
PRIDEiP17302
ProteomicsDBi53467
TopDownProteomicsiP17302

Protocols and materials databases

DNASUi2697
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000282561; ENSP00000282561; ENSG00000152661
GeneIDi2697
KEGGihsa:2697
UCSCiuc003pyr.4 human

Organism-specific databases

CTDi2697
DisGeNETi2697
EuPathDBiHostDB:ENSG00000152661.7
GeneCardsiGJA1
HGNCiHGNC:4274 GJA1
HPAiCAB010753
HPA035097
HPA047551
HPA069245
MalaCardsiGJA1
MIMi104100 phenotype
121014 gene
164200 phenotype
186100 phenotype
218400 phenotype
234100 phenotype
241550 phenotype
257850 phenotype
600309 phenotype
617525 phenotype
neXtProtiNX_P17302
OpenTargetsiENSG00000152661
Orphaneti1010 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
PharmGKBiPA28685
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IF97 Eukaryota
ENOG4110JTW LUCA
GeneTreeiENSGT00910000143998
HOGENOMiHOG000231127
HOVERGENiHBG009576
InParanoidiP17302
KOiK07372
OMAiGANVDMH
OrthoDBiEOG091G0FKH
PhylomeDBiP17302
TreeFamiTF329606

Enzyme and pathway databases

ReactomeiR-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-191647 c-src mediated regulation of Cx43 function and closure of gap junctions
R-HSA-196025 Formation of annular gap junctions
SignaLinkiP17302
SIGNORiP17302

Miscellaneous databases

ChiTaRSiGJA1 human
GeneWikiiGJA1
GenomeRNAii2697
PROiPR:P17302
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000152661 Expressed in 236 organ(s), highest expression level in pigmented layer of retina
CleanExiHS_GJA1
GenevisibleiP17302 HS

Family and domain databases

Gene3Di1.20.1440.80, 1 hit
1.20.5.1130, 1 hit
InterProiView 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
PANTHERiPTHR11984 PTHR11984, 1 hit
PTHR11984:SF33 PTHR11984:SF33, 1 hit
PfamiView protein in Pfam
PF00029 Connexin, 1 hit
PF03508 Connexin43, 1 hit
PRINTSiPR00206 CONNEXIN
PR01132 CONNEXINA1
SMARTiView protein in SMART
SM00037 CNX, 1 hit
SM01089 Connexin_CCC, 1 hit
SUPFAMiSSF118220 SSF118220, 1 hit
PROSITEiView protein in PROSITE
PS00407 CONNEXINS_1, 1 hit
PS00408 CONNEXINS_2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCXA1_HUMAN
AccessioniPrimary (citable) accession number: P17302
Secondary accession number(s): B2R5U9, Q6FHU1, Q9Y5I8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1990
Last sequence update: January 23, 2007
Last modified: November 7, 2018
This is version 226 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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 proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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