Skip Header

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

P17302

- CXA1_HUMAN

UniProt

P17302 - CXA1_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Gap junction alpha-1 protein

Gene

GJA1

Organism
Homo sapiens (Human)
Status
Reviewed - 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).By similarity

GO - Molecular functioni

  1. gap junction channel activity Source: BHF-UCL
  2. ion transmembrane transporter activity Source: ProtInc
  3. signal transducer activity Source: UniProtKB

GO - Biological processi

  1. adult heart development Source: Ensembl
  2. apoptotic process Source: Ensembl
  3. ATP transport Source: Ensembl
  4. atrial cardiac muscle cell action potential Source: BHF-UCL
  5. atrial ventricular junction remodeling Source: Ensembl
  6. blood vessel morphogenesis Source: Ensembl
  7. cell-cell signaling Source: ProtInc
  8. cell communication by chemical coupling Source: Ensembl
  9. cell communication by electrical coupling Source: BHF-UCL
  10. cellular response to mechanical stimulus Source: Ensembl
  11. chronic inflammatory response Source: Ensembl
  12. embryonic digit morphogenesis Source: Ensembl
  13. endothelium development Source: Ensembl
  14. epithelial cell maturation Source: Ensembl
  15. gap junction assembly Source: UniProtKB
  16. heart development Source: ProtInc
  17. heart looping Source: Ensembl
  18. in utero embryonic development Source: Ensembl
  19. ion transmembrane transport Source: GOC
  20. lens development in camera-type eye Source: Ensembl
  21. membrane organization Source: Reactome
  22. milk ejection Source: Ensembl
  23. muscle contraction Source: ProtInc
  24. negative regulation of cardiac muscle cell proliferation Source: Ensembl
  25. negative regulation of gene expression Source: Ensembl
  26. neuron migration Source: Ensembl
  27. neuron projection morphogenesis Source: Ensembl
  28. osteoblast differentiation Source: Ensembl
  29. positive regulation of behavioral fear response Source: Ensembl
  30. positive regulation of cell communication by chemical coupling Source: Ensembl
  31. positive regulation of cytosolic calcium ion concentration Source: Ensembl
  32. positive regulation of gene expression Source: Ensembl
  33. positive regulation of glomerular filtration Source: Ensembl
  34. positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
  35. positive regulation of protein catabolic process Source: Ensembl
  36. positive regulation of striated muscle tissue development Source: Ensembl
  37. positive regulation of vasoconstriction Source: Ensembl
  38. positive regulation of vasodilation Source: Ensembl
  39. protein oligomerization Source: Ensembl
  40. regulation of atrial cardiac muscle cell membrane depolarization Source: Ensembl
  41. regulation of bone mineralization Source: Ensembl
  42. regulation of bone remodeling Source: Ensembl
  43. regulation of calcium ion transport Source: Ensembl
  44. regulation of tight junction assembly Source: Ensembl
  45. regulation of ventricular cardiac muscle cell membrane depolarization Source: Ensembl
  46. regulation of ventricular cardiac muscle cell membrane repolarization Source: Ensembl
  47. response to fluid shear stress Source: Ensembl
  48. response to peptide hormone Source: Ensembl
  49. response to pH Source: Ensembl
  50. signal transduction Source: GOC
  51. skeletal muscle tissue regeneration Source: Ensembl
  52. transmembrane transport Source: GOC
  53. transport Source: ProtInc
  54. vascular transport Source: Ensembl
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_11035. Gap junction degradation.
REACT_11039. Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane.
REACT_11043. c-src mediated regulation of Cx43 function and closure of gap junctions.
REACT_11049. Formation of annular gap junctions.
REACT_9392. Transport of connexins along the secretory pathway.
REACT_9398. Oligomerization of connexins into connexons.
REACT_9509. Gap junction assembly.
SignaLinkiP17302.

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
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:4274. GJA1.

Subcellular locationi

Cell membrane 1 Publication; Multi-pass membrane protein 1 Publication. Cell junctiongap junction 1 Publication

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 1312CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei14 – 3623HelicalSequence AnalysisAdd
BLAST
Topological domaini37 – 7640ExtracellularSequence AnalysisAdd
BLAST
Transmembranei77 – 9923HelicalSequence AnalysisAdd
BLAST
Topological domaini100 – 15455CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei155 – 17723HelicalSequence AnalysisAdd
BLAST
Topological domaini178 – 20831ExtracellularSequence AnalysisAdd
BLAST
Transmembranei209 – 23123HelicalSequence AnalysisAdd
BLAST
Topological domaini232 – 382151CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. apical plasma membrane Source: Ensembl
  2. connexon complex Source: ProtInc
  3. contractile fiber Source: Ensembl
  4. cytosol Source: Ensembl
  5. early endosome Source: Ensembl
  6. endoplasmic reticulum membrane Source: Reactome
  7. extracellular vesicular exosome Source: UniProt
  8. fascia adherens Source: Ensembl
  9. focal adhesion Source: UniProtKB
  10. gap junction Source: BHF-UCL
  11. Golgi apparatus Source: BHF-UCL
  12. Golgi-associated vesicle membrane Source: Reactome
  13. Golgi membrane Source: Reactome
  14. integral component of plasma membrane Source: UniProtKB
  15. intercalated disc Source: BHF-UCL
  16. intermediate filament Source: Ensembl
  17. lateral plasma membrane Source: Ensembl
  18. lysosome Source: Ensembl
  19. membrane raft Source: BHF-UCL
  20. mitochondrial outer membrane Source: Ensembl
  21. multivesicular body Source: Ensembl
  22. plasma membrane Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Cell junction, Cell membrane, Gap junction, Membrane

Pathology & Biotechi

Involvement in diseasei

Oculodentodigital 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.16 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21G → V in ODDD. 1 Publication
VAR_058990
Natural varianti7 – 71L → V in ODDD. 1 Publication
VAR_058991
Natural varianti11 – 111L → P in ODDD. 2 Publications
VAR_058992
Natural varianti17 – 171Y → S in ODDD. 1 Publication
VAR_015747
Natural varianti18 – 181S → P in ODDD. 1 Publication
VAR_015748
Natural varianti21 – 211G → R in ODDD. 1 Publication
VAR_015749
Natural varianti22 – 221G → E in ODDD. 1 Publication
VAR_015750
Natural varianti23 – 231K → T in ODDD. 1 Publication
VAR_015751
Natural varianti27 – 271S → P in ODDD. 1 Publication
VAR_038356
Natural varianti31 – 311I → M in ODDD. 1 Publication
VAR_038357
Natural varianti40 – 401A → V in ODDD. 4 Publications
VAR_015752
Natural varianti41 – 444Missing in ODDD. 1 Publication
VAR_070439
Natural varianti47 – 471D → H in ODDD. 1 Publication
VAR_071009
Natural varianti49 – 491Q → K in ODDD. 1 Publication
VAR_015753
Natural varianti49 – 491Q → P in ODDD. 1 Publication
VAR_058994
Natural varianti49 – 491Q → QQ in ODDD. 1 Publication
VAR_058995
Natural varianti52 – 521F → FF in ODDD. 1 Publication
VAR_015754
Natural varianti59 – 591P → H in ODDD. 1 Publication
VAR_058996
Natural varianti69 – 691S → Y in ODDD. 1 Publication
VAR_038358
Natural varianti76 – 761R → S in ODDD. 1 Publication
VAR_015755
Natural varianti86 – 861S → Y in ODDD; de novo mutation found in a sporadic case. 1 Publication
VAR_071010
Natural varianti90 – 901L → V in ODDD. 1 Publication
VAR_015756
Natural varianti95 – 951H → R in ODDD. 1 Publication
VAR_058998
Natural varianti96 – 961V → A in ODDD. 1 Publication
VAR_058999
Natural varianti96 – 961V → E in ODDD. 1 Publication
VAR_059000
Natural varianti96 – 961V → M in ODDD. 1 Publication
Corresponds to variant rs28931601 [ dbSNP | Ensembl ].
VAR_059001
Natural varianti98 – 981Y → C in ODDD. 1 Publication
VAR_015757
Natural varianti102 – 1021K → N in ODDD. 1 Publication
VAR_015758
Natural varianti106 – 1061L → P in ODDD. 1 Publication
VAR_059002
Natural varianti106 – 1061L → R in ODDD. 1 Publication
VAR_071011
Natural varianti110 – 1101E → D in ODDD. 1 Publication
VAR_059003
Natural varianti113 – 1131L → P in ODDD. 2 Publications
VAR_038359
Natural varianti130 – 1301I → T in ODDD. 1 Publication
VAR_015759
Natural varianti134 – 1341K → E in ODDD. 1 Publication
VAR_015760
Natural varianti134 – 1341K → N in ODDD. 1 Publication
VAR_038360
Natural varianti138 – 1381G → R in ODDD. 1 Publication
VAR_015761
Natural varianti147 – 1471M → T in ODDD. 1 Publication
VAR_059004
Natural varianti154 – 1541T → A in ODDD. 2 Publications
VAR_059005
Natural varianti154 – 1541T → N in ODDD. 1 Publication
VAR_059006
Natural varianti169 – 1691Missing in ODDD. 1 Publication
VAR_059007
Natural varianti194 – 1941H → 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 Publication
VAR_059008
Natural varianti201 – 2011S → F in ODDD. 1 Publication
VAR_059009
Natural varianti202 – 2021R → H in ODDD. 3 Publications
VAR_015762
Natural varianti206 – 2061K → R in ODDD. 1 Publication
VAR_070440
Natural varianti216 – 2161V → L in ODDD. 1 Publication
VAR_015763
Natural varianti220 – 2201S → Y in ODDD. 1 Publication
VAR_059010
Oculodentodigital 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.
Syndactyly 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.1 Publication
Note: The disease may be caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti143 – 1431G → S in SDTY3. 1 Publication
Corresponds to variant rs28931600 [ dbSNP | Ensembl ].
VAR_038361
Hypoplastic 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti362 – 3621R → Q in HLHS1 and AVSD3; associated with Gln-376 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 Publication
Corresponds to variant rs2227885 [ dbSNP | Ensembl ].
VAR_032924
Natural varianti376 – 3761R → Q in HLHS1 and AVSD3; associated with Gln-362 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 Publication
VAR_032925
Hallermann-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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti76 – 761R → H in HSS; overlapping features with oculodentodigital dysplasia. 1 Publication
VAR_058997
Atrioventricular 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti362 – 3621R → Q in HLHS1 and AVSD3; associated with Gln-376 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 Publication
Corresponds to variant rs2227885 [ dbSNP | Ensembl ].
VAR_032924
Natural varianti376 – 3761R → Q in HLHS1 and AVSD3; associated with Gln-362 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 Publication
VAR_032925
Craniometaphyseal 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti239 – 2391R → Q in CMDR. 1 Publication
VAR_070441

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

MIMi164200. phenotype.
186100. phenotype.
218400. phenotype.
234100. phenotype.
241550. phenotype.
257850. phenotype.
600309. phenotype.
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11RemovedBy similarity
Chaini2 – 382381Gap junction alpha-1 proteinPRO_0000057801Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi54 ↔ 1921 Publication
Cross-linki144 – 144Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Disulfide bondi187 ↔ 1981 Publication
Cross-linki237 – 237Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Modified residuei247 – 2471PhosphotyrosineBy similarity
Modified residuei255 – 2551Phosphoserine2 Publications
Modified residuei262 – 2621Phosphoserine2 Publications
Modified residuei271 – 2711S-nitrosocysteineBy similarity
Modified residuei306 – 3061Phosphoserine1 Publication
Modified residuei314 – 3141Phosphoserine1 Publication
Modified residuei325 – 3251Phosphoserine; by CK11 Publication
Modified residuei328 – 3281Phosphoserine; by CK11 Publication
Modified residuei330 – 3301Phosphoserine; by CK11 Publication
Modified residuei344 – 3441Phosphoserine1 Publication
Modified residuei365 – 3651PhosphoserineBy similarity
Modified residuei368 – 3681Phosphoserine; by PKC/PRKCGBy similarity
Modified residuei369 – 3691PhosphoserineBy similarity
Modified residuei373 – 3731PhosphoserineBy similarity

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.By similarity4 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

MaxQBiP17302.
PaxDbiP17302.
PeptideAtlasiP17302.
PRIDEiP17302.

PTM databases

PhosphoSiteiP17302.

Expressioni

Tissue specificityi

Expressed in the heart and fetal cochlea.1 Publication

Gene expression databases

BgeeiP17302.
CleanExiHS_GJA1.
ExpressionAtlasiP17302. baseline and differential.
GenevestigatoriP17302.

Organism-specific databases

HPAiCAB010753.

Interactioni

Subunit structurei

A 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.By similarity2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
DSC2Q02487-12EBI-1103439,EBI-6900677
TJP1Q071573EBI-1103439,EBI-79553

Protein-protein interaction databases

BioGridi108964. 32 interactions.
IntActiP17302. 3 interactions.
MINTiMINT-147603.
STRINGi9606.ENSP00000282561.

Structurei

Secondary structure

1
382
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi240 – 2423Combined sources
Helixi246 – 2538Combined sources
Helixi255 – 2573Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2LL2NMR-A234-259[»]
ProteinModelPortaliP17302.
SMRiP17302. Positions 3-382.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG45368.
GeneTreeiENSGT00760000118780.
HOGENOMiHOG000231127.
HOVERGENiHBG009576.
InParanoidiP17302.
KOiK07372.
OMAiGANVDMH.
OrthoDBiEOG7P2XSS.
PhylomeDBiP17302.
TreeFamiTF329606.

Family and domain databases

InterProiIPR000500. Connexin.
IPR002261. Connexin43.
IPR013124. Connexin43_C.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view]
PANTHERiPTHR11984. PTHR11984. 1 hit.
PfamiPF00029. Connexin. 1 hit.
PF03508. Connexin43. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view]
PRINTSiPR00206. CONNEXIN.
PR01132. CONNEXINA1.
SMARTiSM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view]
PROSITEiPS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti2 – 21G → V in ODDD. 1 Publication
VAR_058990
Natural varianti7 – 71L → V in ODDD. 1 Publication
VAR_058991
Natural varianti11 – 111L → P in ODDD. 2 Publications
VAR_058992
Natural varianti17 – 171Y → S in ODDD. 1 Publication
VAR_015747
Natural varianti18 – 181S → P in ODDD. 1 Publication
VAR_015748
Natural varianti21 – 211G → R in ODDD. 1 Publication
VAR_015749
Natural varianti22 – 221G → E in ODDD. 1 Publication
VAR_015750
Natural varianti23 – 231K → T in ODDD. 1 Publication
VAR_015751
Natural varianti27 – 271S → P in ODDD. 1 Publication
VAR_038356
Natural varianti31 – 311I → M in ODDD. 1 Publication
VAR_038357
Natural varianti40 – 401A → V in ODDD. 4 Publications
VAR_015752
Natural varianti41 – 444Missing in ODDD. 1 Publication
VAR_070439
Natural varianti41 – 411V → 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
VAR_058993
Natural varianti47 – 471D → H in ODDD. 1 Publication
VAR_071009
Natural varianti49 – 491Q → K in ODDD. 1 Publication
VAR_015753
Natural varianti49 – 491Q → P in ODDD. 1 Publication
VAR_058994
Natural varianti49 – 491Q → QQ in ODDD. 1 Publication
VAR_058995
Natural varianti52 – 521F → FF in ODDD. 1 Publication
VAR_015754
Natural varianti59 – 591P → H in ODDD. 1 Publication
VAR_058996
Natural varianti69 – 691S → Y in ODDD. 1 Publication
VAR_038358
Natural varianti76 – 761R → H in HSS; overlapping features with oculodentodigital dysplasia. 1 Publication
VAR_058997
Natural varianti76 – 761R → S in ODDD. 1 Publication
VAR_015755
Natural varianti86 – 861S → Y in ODDD; de novo mutation found in a sporadic case. 1 Publication
VAR_071010
Natural varianti90 – 901L → V in ODDD. 1 Publication
VAR_015756
Natural varianti95 – 951H → R in ODDD. 1 Publication
VAR_058998
Natural varianti96 – 961V → A in ODDD. 1 Publication
VAR_058999
Natural varianti96 – 961V → E in ODDD. 1 Publication
VAR_059000
Natural varianti96 – 961V → M in ODDD. 1 Publication
Corresponds to variant rs28931601 [ dbSNP | Ensembl ].
VAR_059001
Natural varianti98 – 981Y → C in ODDD. 1 Publication
VAR_015757
Natural varianti102 – 1021K → N in ODDD. 1 Publication
VAR_015758
Natural varianti106 – 1061L → P in ODDD. 1 Publication
VAR_059002
Natural varianti106 – 1061L → R in ODDD. 1 Publication
VAR_071011
Natural varianti110 – 1101E → D in ODDD. 1 Publication
VAR_059003
Natural varianti113 – 1131L → P in ODDD. 2 Publications
VAR_038359
Natural varianti124 – 1241D → E.
Corresponds to variant rs2228966 [ dbSNP | Ensembl ].
VAR_014094
Natural varianti130 – 1301I → T in ODDD. 1 Publication
VAR_015759
Natural varianti134 – 1341K → E in ODDD. 1 Publication
VAR_015760
Natural varianti134 – 1341K → N in ODDD. 1 Publication
VAR_038360
Natural varianti138 – 1381G → R in ODDD. 1 Publication
VAR_015761
Natural varianti143 – 1431G → S in SDTY3. 1 Publication
Corresponds to variant rs28931600 [ dbSNP | Ensembl ].
VAR_038361
Natural varianti147 – 1471M → T in ODDD. 1 Publication
VAR_059004
Natural varianti148 – 1481R → Q.1 Publication
Corresponds to variant rs2228960 [ dbSNP | Ensembl ].
VAR_014095
Natural varianti154 – 1541T → A in ODDD. 2 Publications
VAR_059005
Natural varianti154 – 1541T → N in ODDD. 1 Publication
VAR_059006
Natural varianti168 – 1681A → T.
Corresponds to variant rs2228961 [ dbSNP | Ensembl ].
VAR_014096
Natural varianti169 – 1691Missing in ODDD. 1 Publication
VAR_059007
Natural varianti185 – 1851Y → H.
Corresponds to variant rs2228962 [ dbSNP | Ensembl ].
VAR_014097
Natural varianti194 – 1941H → 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 Publication
VAR_059008
Natural varianti201 – 2011S → F in ODDD. 1 Publication
VAR_059009
Natural varianti202 – 2021R → C.
Corresponds to variant rs2228964 [ dbSNP | Ensembl ].
VAR_014098
Natural varianti202 – 2021R → H in ODDD. 3 Publications
VAR_015762
Natural varianti204 – 2041T → M.
Corresponds to variant rs2228965 [ dbSNP | Ensembl ].
VAR_014099
Natural varianti206 – 2061K → R in ODDD. 1 Publication
VAR_070440
Natural varianti216 – 2161V → L in ODDD. 1 Publication
VAR_015763
Natural varianti220 – 2201S → Y in ODDD. 1 Publication
VAR_059010
Natural varianti239 – 2391R → Q in CMDR. 1 Publication
VAR_070441
Natural varianti239 – 2391R → W in congenital heart malformations. 1 Publication
Corresponds to variant rs2227887 [ dbSNP | Ensembl ].
VAR_014100
Natural varianti251 – 2511S → T in congenital heart malformations. 1 Publication
VAR_059011
Natural varianti253 – 2531A → P in congenital heart malformations. 1 Publication
VAR_059012
Natural varianti253 – 2531A → V.1 Publication
Corresponds to variant rs17653265 [ dbSNP | Ensembl ].
VAR_015764
Natural varianti283 – 2831P → L in congenital heart malformations. 1 Publication
Corresponds to variant rs2228974 [ dbSNP | Ensembl ].
VAR_014101
Natural varianti290 – 2901T → N in congenital heart malformations. 1 Publication
Corresponds to variant rs2227881 [ dbSNP | Ensembl ].
VAR_014102
Natural varianti326 – 3261T → A.1 Publication
VAR_059013
Natural varianti352 – 3521E → G in heart malformations. 1 Publication
VAR_059014
Natural varianti362 – 3621R → Q in HLHS1 and AVSD3; associated with Gln-376 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 Publication
Corresponds to variant rs2227885 [ dbSNP | Ensembl ].
VAR_032924
Natural varianti364 – 3641S → P in heart malformations; shows abnormalities in the regulation of cell-cell communication as compared with cells expressing normal GJA1. 1 Publication
VAR_059015
Natural varianti365 – 3651S → N in heart malformations. 1 Publication
VAR_059016
Natural varianti373 – 3731S → G.1 Publication
VAR_059017
Natural varianti376 – 3761R → Q in HLHS1 and AVSD3; associated with Gln-362 in one individual with atrioventricular septal defect; abolishes phosphorylation by PKA and PKC. 1 Publication
VAR_032925

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. Translation: CAI20002.1.
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.3. human.

Polymorphism databases

DMDMi117706.

Keywords - Coding sequence diversityi

Polymorphism

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. Translation: CAI20002.1 .
CH471051 Genomic DNA. Translation: EAW48178.1 .
BC026329 mRNA. Translation: AAH26329.1 .
CCDSi CCDS5123.1.
PIRi A35853.
RefSeqi NP_000156.1. NM_000165.4.
UniGenei Hs.700699.
Hs.74471.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2LL2 NMR - A 234-259 [» ]
ProteinModelPortali P17302.
SMRi P17302. Positions 3-382.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 108964. 32 interactions.
IntActi P17302. 3 interactions.
MINTi MINT-147603.
STRINGi 9606.ENSP00000282561.

Chemistry

DrugBanki DB01136. Carvedilol.
GuidetoPHARMACOLOGYi 728.

PTM databases

PhosphoSitei P17302.

Polymorphism databases

DMDMi 117706.

Proteomic databases

MaxQBi P17302.
PaxDbi P17302.
PeptideAtlasi P17302.
PRIDEi P17302.

Protocols and materials databases

DNASUi 2697.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000282561 ; ENSP00000282561 ; ENSG00000152661 .
GeneIDi 2697.
KEGGi hsa:2697.
UCSCi uc003pyr.3. human.

Organism-specific databases

CTDi 2697.
GeneCardsi GC06P121756.
HGNCi HGNC:4274. GJA1.
HPAi CAB010753.
MIMi 121014. gene.
164200. phenotype.
186100. phenotype.
218400. phenotype.
234100. phenotype.
241550. phenotype.
257850. phenotype.
600309. phenotype.
neXtProti NX_P17302.
Orphaneti 90636. Autosomal recessive non-syndromic sensorineural deafness type DFNB.
1522. Craniometaphyseal dysplasia.
2248. Hypoplastic left heart syndrome.
2710. Oculodentodigital dysplasia.
93404. Syndactyly type 3.
PharmGKBi PA28685.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG45368.
GeneTreei ENSGT00760000118780.
HOGENOMi HOG000231127.
HOVERGENi HBG009576.
InParanoidi P17302.
KOi K07372.
OMAi GANVDMH.
OrthoDBi EOG7P2XSS.
PhylomeDBi P17302.
TreeFami TF329606.

Enzyme and pathway databases

Reactomei REACT_11035. Gap junction degradation.
REACT_11039. Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane.
REACT_11043. c-src mediated regulation of Cx43 function and closure of gap junctions.
REACT_11049. Formation of annular gap junctions.
REACT_9392. Transport of connexins along the secretory pathway.
REACT_9398. Oligomerization of connexins into connexons.
REACT_9509. Gap junction assembly.
SignaLinki P17302.

Miscellaneous databases

ChiTaRSi GJA1. human.
GeneWikii GJA1.
GenomeRNAii 2697.
NextBioi 10668.
PROi P17302.
SOURCEi Search...

Gene expression databases

Bgeei P17302.
CleanExi HS_GJA1.
ExpressionAtlasi P17302. baseline and differential.
Genevestigatori P17302.

Family and domain databases

InterProi IPR000500. Connexin.
IPR002261. Connexin43.
IPR013124. Connexin43_C.
IPR019570. Connexin_CCC.
IPR017990. Connexin_CS.
IPR013092. Connexin_N.
[Graphical view ]
PANTHERi PTHR11984. PTHR11984. 1 hit.
Pfami PF00029. Connexin. 1 hit.
PF03508. Connexin43. 1 hit.
PF10582. Connexin_CCC. 1 hit.
[Graphical view ]
PRINTSi PR00206. CONNEXIN.
PR01132. CONNEXINA1.
SMARTi SM00037. CNX. 1 hit.
SM01089. Connexin_CCC. 1 hit.
[Graphical view ]
PROSITEi PS00407. CONNEXINS_1. 1 hit.
PS00408. CONNEXINS_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Molecular characterization and functional expression of the human cardiac gap junction channel."
    Fishman G.I., Spray D.C., Leinwand L.A.
    J. Cell Biol. 111:589-598(1990) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Heart muscle.
  2. "The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures."
    Fishman G.I., Eddy R.L., Shows T.B., Rosenthal L., Leinwand L.A.
    Genomics 10:250-256(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. "Sporadic cases of dilated cardiomyopathies associated with atrioventricular conduction defects are not linked to mutation within the connexins 40 and 43 genes."
    Haefliger J.-A., Goy J.J., Waeber G.
    Eur. Heart J. 20:1843-1843(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  4. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Cerebellum.
  6. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  9. "Intercellular calcium signaling via gap junction in connexin-43-transfected cells."
    Toyofuku T., Yabuki M., Otsu K., Kuzuya T., Hori M., Tada M.
    J. Biol. Chem. 273:1519-1528(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: DISULFIDE BONDS.
  10. "Phosphorylation of serine 262 in the gap junction protein connexin-43 regulates DNA synthesis in cell-cell contact forming cardiomyocytes."
    Doble B.W., Dang X., Ping P., Fandrich R.R., Nickel B.E., Jin Y., Cattini P.A., Kardami E.
    J. Cell Sci. 117:507-514(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-262.
  11. "Connexin expression and turnover: implications for cardiac excitability."
    Saffitz J.E., Laing J.G., Yamada K.A.
    Circ. Res. 86:723-728(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW.
  12. "Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy."
    Gebbia M., Towbin J.A., Casey B.
    Circulation 94:1909-1912(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: SHOWS THAT HEART LATERALIZATION DEFECT ARE NOT DUE TO GJA1.
  13. "Absence of mutations in the regulatory domain of the gap junction protein connexin 43 in patients with visceroatrial heterotaxy."
    Penman Splitt M., Tsai M.Y., Burn J., Goodship J.A.
    Heart 77:369-370(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: SHOWS THAT HEART LATERALIZATION DEFECT ARE NOT DUE TO GJA1.
  14. "Connexin43 gene mutations and heterotaxy."
    Toth T., Hajdu J., Marton T., Nagy B., Papp Z.
    Circulation 97:117-118(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: SHOWS THAT HEART LATERALIZATION DEFECT ARE NOT DUE TO GJA1.
  15. "Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness."
    Liu X.Z., Xia X.J., Adams J., Chen Z.Y., Welch K.O., Tekin M., Ouyang X.M., Kristiansen A., Pandya A., Balkany T., Arnos K.S., Nance W.E.
    Hum. Mol. Genet. 10:2945-2951(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: ASSOCIATION WITH NON-SYNDROMIC AUTOSOMAL RECESSIVE DEAFNESS, TISSUE SPECIFICITY.
  16. "Casein kinase 1 regulates connexin-43 gap junction assembly."
    Cooper C.D., Lampe P.D.
    J. Biol. Chem. 277:44962-44968(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-325; SER-328 AND SER-330 BY CSNK1D/CK1, INTERACTION WITH CSNK1D.
  17. "Molecular cloning and functional analysis of a novel Cx43 partner protein CIP150."
    Akiyama M., Ishida N., Ogawa T., Yogo K., Takeya T.
    Biochem. Biophys. Res. Commun. 335:1264-1271(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH RIC1.
  18. "Cellular sublocalization of Cx43 and the establishment of functional coupling in IMR-32 neuroblastoma cells."
    Arnold J.M., Phipps M.W., Chen J., Phipps J.
    Mol. Carcinog. 42:159-169(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION AT SER-255 AND SER-262.
  19. "A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome."
    Richardson R.J., Joss S., Tomkin S., Ahmed M., Sheridan E., Dixon M.J.
    J. Med. Genet. 43:E37-E37(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN ODDD-AR.
  20. Cited for: NON-ASSOCIATION WITH NON-SYNDROMIC AUTOSOMAL RECESSIVE DEAFNESS, VARIANTS ODDD SER-17; PRO-18; ARG-21; GLU-22; THR-23; VAL-40; LYS-49; PHE-52 INS; SER-76; VAL-90; CYS-98; ASN-102; THR-130; GLU-134; ARG-138; HIS-202 AND LEU-216, VARIANT VAL-253.
  21. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-255; SER-306; SER-314 AND SER-344, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  22. "The gap junction channel protein connexin 43 is covalently modified and regulated by SUMOylation."
    Kjenseth A., Fykerud T.A., Sirnes S., Bruun J., Yohannes Z., Kolberg M., Omori Y., Rivedal E., Leithe E.
    J. Biol. Chem. 287:15851-15861(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUMOYLATION AT LYS-144 AND LYS-237, SUBCELLULAR LOCATION.
  23. "Mutations of the connexin43 gap-junction gene in patients with heart malformations and defects of laterality."
    Britz-Cunningham S.H., Shah M.M., Zuppan C.W., Fletcher W.H.
    N. Engl. J. Med. 332:1323-1329(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HEART MALFORMATIONS GLY-352; PRO-364 AND ASN-365, VARIANTS ALA-326 AND GLY-373, CHARACTERIZATION OF VARIANT HEART MALFORMATIONS PRO-364.
  24. "Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE)."
    Dasgupta C., Martinez A.-M., Zuppan C.W., Shah M.M., Bailey L.L., Fletcher W.H.
    Mutat. Res. 479:173-186(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS HLHS1 GLN-362 AND GLN-376, VARIANTS AVSD3 GLN-362 AND GLN-376, CHARACTERIZATION OF VARIANTS HLHS1 GLN-362 AND GLN-376.
  25. "Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair."
    Kjaer K.W., Hansen L., Eiberg H., Leicht P., Opitz J.M., Tommerup N.
    Am. J. Med. Genet. A 127:152-157(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ODDD MET-96.
  26. "A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype."
    Pizzuti A., Flex E., Mingarelli R., Salpietro C., Zelante L., Dallapiccola B.
    Hum. Mutat. 23:286-286(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT HSS HIS-76.
  27. "Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly."
    Richardson R.R., Donnai D., Meire F., Dixon M.J.
    J. Med. Genet. 41:60-67(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ODDD PRO-27; MET-31; VAL-40; TYR-69; PRO-113; ASN-134; GLN-148 AND HIS-202, VARIANT SDTY3 SER-143.
  28. "A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly."
    Vitiello C., D'Adamo P., Gentile F., Vingolo E.M., Gasparini P., Banfi S.
    Am. J. Med. Genet. A 133:58-60(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ODDD PRO-194.
  29. "Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia."
    Honkaniemi J., Kalkkila J.P., Koivisto P., Kahara V., Latvala T., Simola K.
    Am. J. Med. Genet. A 139:48-49(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ODDD ARG-95.
  30. "A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia."
    Vasconcellos J.P.C., Melo M.B., Schimiti R.B., Bressanim N.C., Costa F.F., Costa V.P.
    Arch. Ophthalmol. 123:1422-1426(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ODDD HIS-59.
  31. "Mutations of connexin43 in fetuses with congenital heart malformations."
    Chen P., Xie L.-J., Huang G.-Y., Zhao X.-Q., Chang C.
    Chin. Med. J. 118:971-976(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS CONGENITAL HEART MALFORMATIONS TRP-239; THR-251; PRO-253; LEU-283 AND ASN-290.
  32. "Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia."
    Kellermayer R., Keller M., Ratajczak P., Richardson E., Harangi F., Merei E., Melegh B., Kosztolanyi G., Richard G.
    Eur. J. Dermatol. 15:75-79(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT LEU-41.
  33. "Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD)."
    Debeer P., Van Esch H., Huysmans C., Pijkels E., De Smet L., Van de Ven W., Devriendt K., Fryns J.-P.
    Eur. J. Med. Genet. 48:377-387(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ODDD VAL-40; ASP-110; THR-147 AND PHE-169 DEL.
  34. Cited for: VARIANTS ODDD GLU-96; PRO-113; ASN-154 AND TYR-220.
  35. "A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis."
    Kelly S.C., Ratajczak P., Keller M., Purcell S.M., Griffin T., Richard G.
    Eur. J. Dermatol. 16:241-245(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ODDD PRO-11.
  36. "Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene."
    van Es R.J.J., Wittebol-Post D., Beemer F.A.
    Int. J. Oral Maxillofac. Surg. 36:858-860(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ODDD ALA-154.
  37. "A new GJA1 (connexin 43) mutation causing oculodentodigital dysplasia associated to uncommon features."
    de la Parra D.R., Zenteno J.C.
    Ophthalmic Genet. 28:198-202(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ODDD VAL-2.
  38. "GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype."
    Paznekas W.A., Karczeski B., Vermeer S., Lowry R.B., Delatycki M., Laurence F., Koivisto P.A., Van Maldergem L., Boyadjiev S.A., Bodurtha J.N., Jabs E.W.
    Hum. Mutat. 30:724-733(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ODDD VAL-7; VAL-40; PRO-49; GLN-49 INS; ALA-96; PRO-106; ALA-154; PHE-201 AND HIS-202.
  39. "Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation."
    Gabriel L.A., Sachdeva R., Marcotty A., Rockwood E.J., Traboulsi E.I.
    Arch. Ophthalmol. 129:781-784(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ODDD PRO-11 AND 41-VAL--ALA-44 DEL.
  40. "A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family."
    Brice G., Ostergaard P., Jeffery S., Gordon K., Mortimer P.S., Mansour S.
    Clin. Genet. 84:378-381(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ODDD ARG-206.
  41. "A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia."
    Hu Y., Chen I.P., de Almeida S., Tiziani V., Do Amaral C.M., Gowrishankar K., Passos-Bueno M.R., Reichenberger E.J.
    PLoS ONE 8:E73576-E73576(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CMDR GLN-239.
  42. "Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum."
    Jamsheer A., Sowinska-Seidler A., Socha M., Stembalska A., Kiraly-Borri C., Latos-Bielenska A.
    Gene 539:157-161(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS ODDD HIS-47; TYR-86 AND ARG-106.

Entry informationi

Entry nameiCXA1_HUMAN
AccessioniPrimary (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: November 26, 2014
This is version 184 of the entry and version 2 of the sequence. [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

External Data

Dasty 3