Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Gap junction alpha-1 protein

Gene

GJA1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

GO - Molecular functioni

  • connexin binding Source: Ensembl
  • disordered domain specific binding Source: Ensembl
  • gap junction channel activity Source: BHF-UCL
  • gap junction channel activity involved in cardiac conduction electrical coupling Source: BHF-UCL
  • gap junction channel activity involved in cell communication by electrical coupling Source: BHF-UCL
  • ion transmembrane transporter activity Source: BHF-UCL
  • PDZ domain binding Source: Ensembl
  • SH3 domain binding Source: Ensembl
  • signal transducer activity Source: BHF-UCL

GO - Biological processi

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000152661.7.
HGNCiHGNC:4274. GJA1.

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:rs121912969Ensembl.1
Natural variantiVAR_01574717Y → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893961Ensembl.1
Natural variantiVAR_01574818S → P in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893962Ensembl.1
Natural variantiVAR_01574921G → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893963Ensembl.1
Natural variantiVAR_01575022G → E in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893964Ensembl.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:rs267606845Ensembl.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:rs28931601Ensembl.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 Publication1
Natural variantiVAR_014095148R → Q in ODDD. 1 Publication1
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:rs104893966Ensembl.1
Natural variantiVAR_059009201S → F in ODDD. 1 Publication1
Natural variantiVAR_015762202R → H in ODDD. 3 PublicationsCorresponds to variant dbSNP:rs750294638Ensembl.1
Natural variantiVAR_070440206K → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs397518464Ensembl.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:rs28931600Ensembl.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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032924362R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Gln-376 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs2227885Ensembl.1
Natural variantiVAR_032925376R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Gln-362 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs104893965Ensembl.1
Hallermann-Streiff syndrome (HSS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by a typical skull shape (brachycephaly with frontal bossing), hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, skin atrophy, dental anomalies and proportionate short stature. Mental retardation is present in a minority of cases.
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:rs267606844Ensembl.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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032924362R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Gln-376 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs2227885Ensembl.1
Natural variantiVAR_032925376R → Q in HLHS1 and AVSD3; unknown pathological significance; associated with Gln-362 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs104893965Ensembl.1
Craniometaphyseal dysplasia, autosomal recessive (CMDR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. Sclerosis of the skull may lead to asymmetry of the mandible, as well as to cranial nerve compression, that may finally result in hearing loss and facial palsy.
See also OMIM:218400
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_070441239R → Q in CMDR. 1 PublicationCorresponds to variant dbSNP:rs764670582Ensembl.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:rs794729675Ensembl.1
Natural variantiVAR_075756227E → D in EKVP3; loss of localization to the plasma membrane, retention in the Golgi apparatus. 1 PublicationCorresponds to variant dbSNP:rs875989815Ensembl.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:rs864309644Ensembl.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.
Orphaneti90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
1522. Craniometaphyseal dysplasia.
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.
TopDownProteomicsiP17302.

PTM databases

iPTMnetiP17302.
PhosphoSitePlusiP17302.

Expressioni

Tissue specificityi

Expressed in the heart and fetal cochlea.1 Publication

Gene expression databases

BgeeiENSG00000152661.
CleanExiHS_GJA1.
GenevisibleiP17302. HS.

Organism-specific databases

HPAiCAB010753.
HPA035097.

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

Show more details

GO - Molecular functioni

Protein-protein interaction databases

BioGridi108964. 60 interactors.
IntActiP17302. 13 interactors.
MINTiMINT-147603.
STRINGi9606.ENSP00000282561.

Structurei

Secondary structure

1382
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi240 – 242Combined sources3
Helixi246 – 253Combined sources8
Helixi255 – 257Combined sources3

3D structure databases

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

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IF97. Eukaryota.
ENOG4110JTW. LUCA.
GeneTreeiENSGT00900000140773.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiP17302.
KOiK07372.
OMAiGANVDMH.
OrthoDBiEOG091G0FKH.
PhylomeDBiP17302.
TreeFamiTF329606.

Family and domain databases

Gene3Di1.20.5.1130. 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.
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:rs864309644Ensembl.1
Natural variantiVAR_07823811L → I in ODDD. 1 Publication1
Natural variantiVAR_05899211L → P in ODDD. 2 PublicationsCorresponds to variant dbSNP:rs121912969Ensembl.1
Natural variantiVAR_01574717Y → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893961Ensembl.1
Natural variantiVAR_01574818S → P in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893962Ensembl.1
Natural variantiVAR_01574921G → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893963Ensembl.1
Natural variantiVAR_01575022G → E in ODDD. 1 PublicationCorresponds to variant dbSNP:rs104893964Ensembl.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:rs794729675Ensembl.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:rs267606844Ensembl.1
Natural variantiVAR_01575576R → S in ODDD. 1 PublicationCorresponds to variant dbSNP:rs267606845Ensembl.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:rs28931601Ensembl.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:rs28931600Ensembl.1
Natural variantiVAR_059004147M → T in ODDD. 1 Publication1
Natural variantiVAR_014095148R → Q in ODDD. 1 Publication1
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:rs104893966Ensembl.1
Natural variantiVAR_059009201S → F in ODDD. 1 Publication1
Natural variantiVAR_015762202R → H in ODDD. 3 PublicationsCorresponds to variant dbSNP:rs750294638Ensembl.1
Natural variantiVAR_070440206K → R in ODDD. 1 PublicationCorresponds to variant dbSNP:rs397518464Ensembl.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:rs875989815Ensembl.1
Natural variantiVAR_070441239R → Q in CMDR. 1 PublicationCorresponds to variant dbSNP:rs764670582Ensembl.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:rs17653265Ensembl.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 Gln-376 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs2227885Ensembl.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 Gln-362 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 PublicationCorresponds to variant dbSNP:rs104893965Ensembl.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

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 22, 2017
This is version 216 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

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

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families