Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(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)

P17302

- CXA1_HUMAN

UniProt

P17302 - CXA1_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 182 (01 Oct 2014)
      Sequence version 2 (23 Jan 2007)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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. protein binding Source: UniProtKB
    4. signal transducer activity Source: UniProtKB

    GO - Biological processi

    1. apoptotic process Source: Ensembl
    2. ATP transport Source: Ensembl
    3. atrial cardiac muscle cell action potential Source: BHF-UCL
    4. cell-cell signaling Source: ProtInc
    5. cell communication by electrical coupling Source: BHF-UCL
    6. cellular response to mechanical stimulus Source: Ensembl
    7. chronic inflammatory response Source: Ensembl
    8. endothelium development Source: Ensembl
    9. gap junction assembly Source: UniProtKB
    10. heart development Source: ProtInc
    11. ion transmembrane transport Source: GOC
    12. membrane organization Source: Reactome
    13. muscle contraction Source: ProtInc
    14. negative regulation of cardiac muscle cell proliferation Source: Ensembl
    15. neuron projection morphogenesis Source: Ensembl
    16. positive regulation of behavioral fear response Source: Ensembl
    17. positive regulation of cell communication by chemical coupling Source: Ensembl
    18. positive regulation of cytosolic calcium ion concentration Source: Ensembl
    19. positive regulation of glomerular filtration Source: Ensembl
    20. positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
    21. positive regulation of protein catabolic process Source: Ensembl
    22. positive regulation of vasoconstriction Source: Ensembl
    23. positive regulation of vasodilation Source: Ensembl
    24. protein oligomerization Source: Ensembl
    25. regulation of calcium ion transport Source: Ensembl
    26. regulation of tight junction assembly Source: Ensembl
    27. response to fluid shear stress Source: Ensembl
    28. response to peptide hormone Source: Ensembl
    29. response to pH Source: Ensembl
    30. signal transduction Source: GOC
    31. transmembrane transport Source: GOC
    32. transport Source: ProtInc
    33. vascular transport Source: Ensembl

    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

    GO - Cellular componenti

    1. connexon complex Source: ProtInc
    2. early endosome Source: Ensembl
    3. endoplasmic reticulum membrane Source: Reactome
    4. extracellular vesicular exosome Source: UniProt
    5. fascia adherens Source: Ensembl
    6. gap junction Source: BHF-UCL
    7. Golgi apparatus Source: BHF-UCL
    8. Golgi-associated vesicle membrane Source: Reactome
    9. Golgi membrane Source: Reactome
    10. integral component of plasma membrane Source: UniProtKB
    11. intercalated disc Source: BHF-UCL
    12. lysosome Source: Ensembl
    13. membrane raft Source: BHF-UCL
    14. mitochondrial outer membrane Source: Ensembl
    15. multivesicular body Source: Ensembl
    16. plasma membrane Source: BHF-UCL

    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.
    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 nonsyndromic 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

    ArrayExpressiP17302.
    BgeeiP17302.
    CleanExiHS_GJA1.
    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 KIAA1432/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. 19 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 – 2423
    Helixi246 – 2538
    Helixi255 – 2573

    3D structure databases

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

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini2 – 1312CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini37 – 7640ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini100 – 15455CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini178 – 20831ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini232 – 382151CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei14 – 3623HelicalSequence AnalysisAdd
    BLAST
    Transmembranei77 – 9923HelicalSequence AnalysisAdd
    BLAST
    Transmembranei155 – 17723HelicalSequence AnalysisAdd
    BLAST
    Transmembranei209 – 23123HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG45368.
    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

    MGDWSALGKL LDKVQAYSTA GGKVWLSVLF IFRILLLGTA VESAWGDEQS    50
    AFRCNTQQPG CENVCYDKSF PISHVRFWVL QIIFVSVPTL LYLAHVFYVM 100
    RKEEKLNKKE EELKVAQTDG VNVDMHLKQI EIKKFKYGIE EHGKVKMRGG 150
    LLRTYIISIL FKSIFEVAFL LIQWYIYGFS LSAVYTCKRD PCPHQVDCFL 200
    SRPTEKTIFI IFMLVVSLVS LALNIIELFY VFFKGVKDRV KGKSDPYHAT 250
    SGALSPAKDC GSQKYAYFNG CSSPTAPLSP MSPPGYKLVT GDRNNSSCRN 300
    YNKQASEQNW ANYSAEQNRM GQAGSTISNS HAQPFDFPDD NQNSKKLAAG 350
    HELQPLAIVD QRPSSRASSR ASSRPRPDDL EI 382
    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.
    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:
    EMBL
    GenBank
    DDBJ
    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.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:
    EMBL
    GenBank
    DDBJ
    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.74471.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    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. 19 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 nonsyndromic 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.
    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

    ArrayExpressi P17302.
    Bgeei P17302.
    CleanExi HS_GJA1.
    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

    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 KIAA1432.
    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: October 1, 2014
    This is version 182 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