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Index > Protein center > GJA3(Gene name) > Human
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  • GJA3 (Gene name),
  • Gap junction alpha-3 protein (Protein name ),  CXA3_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    GJA3;
    Protein name:
    Gap junction alpha-3 protein;
    Alternative:
    Connexin-46(Cx46);
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    A connexon is composed of a hexamer of connexins. This particular connexin is a component of lens fiber gap junctions, can form both junctional and non-junctional ("hemi-") channels.
    Function:
    One 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.
    Subcellular Location:
    Cell membrane Multi-pass membrane protein Cell junction gap junction
    Protein Attributes:
    Sequence length:
    435
    Sequence:
    50:
    MGDWSFLGRL | LENAQEHSTV | IGKVWLTVLF | IFRILVLGAA | AEDVWGDEQS | 
    100:
    DFTCNTQQPG | CENVCYDRAF | PISHIRFWAL | QIIFVSTPTL | IYLGHVLHIV | 
    150:
    RMEEKKKERE | EEEQLKRESP | SPKEPPQDNP | SSRDDRGRVR | MAGALLRTYV | 
    200:
    FNIIFKTLFE | VGFIAGQYFL | YGFELKPLYR | CDRWPCPNTV | DCFISRPTEK | 
    250:
    TIFIIFMLAV | ACASLLLNML | EIYHLGWKKL | KQGVTSRLGP | DASEAPLGTA | 
    300:
    DPPPLPPSSR | PPAVAIGFPP | YYAHTAAPLG | QARAVGYPGA | PPPAADFKLL | 
    350:
    ALTEARGKGQ | SAKLYNGHHH | LLMTEQNWAN | QAAERQPPAL | KAYPAASTPA | 
    400:
    APSPVGSSSP | PLAHEAEAGA | APLLLDGSGS | SLEGSALAGT | PEEEEQAVTT | 
    435:
    AAQMHQPPLP | LGDPGRASKA | SRASSGRARP | EDLAI
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    String:
    SMR:
    UniGene:
    Pfam:
    MIM:
    KEGG:
    Uniprot:
     
    FOR
    ELISA Kit for Human Gap junction alpha-3 protein
    ELISA Kit for Human Gap junction alpha-3 protein
    ELISA Kit for Human Gap junction alpha-3 protein
    ELISA Kit for Human Gap junction alpha-3 protein
    ELISA Kit for Human Gap junction alpha-3 protein
    CLIA Kit for Human Gap junction alpha-3 protein
    CLIA Kit for Human Gap junction alpha-3 protein
    CLIA Kit for Human Gap junction alpha-3 protein
    CLIA Kit for Human Gap junction alpha-3 protein
    CLIA Kit for Human Gap junction alpha-3 protein
    Polyclonal Antibody for Human Gap junction alpha-3 protein
    Polyclonal Antibody for Human Gap junction alpha-3 protein
    Polyclonal Antibody for Human Gap junction alpha-3 protein
    Polyclonal Antibody for Human Gap junction alpha-3 protein
    Polyclonal Antibody for Human Gap junction alpha-3 protein
    Monoclonal Antibody for Human Gap junction alpha-3 protein
    Monoclonal Antibody for Human Gap junction alpha-3 protein
    Monoclonal Antibody for Human Gap junction alpha-3 protein
    Monoclonal Antibody for Human Gap junction alpha-3 protein
    Monoclonal Antibody for Human Gap junction alpha-3 protein
    Protein for Human Gap junction alpha-3 protein
    Protein for Human Gap junction alpha-3 protein
    Protein for Human Gap junction alpha-3 protein
    Protein for Human Gap junction alpha-3 protein
    Protein for Human Gap junction alpha-3 protein

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    References
    1. 1.
      "Connexin46 mutations in autosomal dominant congenital cataract."
      Mackay D. , Ionides A. , Kibar Z. , Rouleau G. , Berry V. , Moore A. , Shiels A. , Bhattacharya S.
      Am. J. Hum. Genet.64:1357-1364(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANTS CTRCT14 SER-63 AND MET-299
      tissue: Lens fibers.
    2. 2.
      "The DNA sequence and analysis of human chromosome 13."
      Dunham A. , Matthews L.H. , Burton J. , Ashurst J.L. , Howe K.L. , Ashcroft K.J. , Beare D.M. , Burford D.C. , Hunt S.E. , Griffiths-Jones S. , Jones M.C. , Keenan S.J. , Oliver K. , Scott C.E. , Ainscough R. , Almeida J.P. , Ambrose K.D. , Andrews D.T. , more...
      Nature428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    3. 3.
      "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]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA];VARIANT MET-299
    4. 4.
      "Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)."
      Rees M.I. , Watts P. , Fenton I. , Clarke A. , Snell R.G. , Owen M.J. , Gray J.
      Hum. Genet.106:206-209(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CTRCT14 LEU-187
    5. 5.
      "A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract."
      Jiang H. , Jin Y. , Bu L. , Zhang W. , Liu J. , Cui B. , Kong X. , Hu L.
      Mol. Vis.9:579-583(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CTRCT14 LEU-32
    6. 6.
      "A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance."
      Burdon K.P. , Wirth M.G. , Mackey D.A. , Russell-Eggitt I.M. , Craig J.E. , Elder J.E. , Dickinson J.L. , Sale M.M.
      J. Med. Genet.41:E106-E106(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CTRCT14 HIS-76
    7. 7.
      "A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant 'nuclear punctate' cataracts linked to chromosome 13q."
      Bennett T.M. , Mackay D.S. , Knopf H.L.S. , Shiels A.
      Mol. Vis.10:376-382(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CTRCT14 LEU-59
    8. 8.
      "A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract."
      Li Y. , Wang J. , Dong B. , Man H.
      Mol. Vis.10:668-671(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CTRCT14 THR-188
    9. 9.
      "Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract."
      Ma Z.W. , Zheng J.Q. , Li J. , Li X.R. , Tang X. , Yuan X.Y. , Zhang X.M. , Sun H.M.
      Br. J. Ophthalmol.89:1535-1537(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CTRCT14 SER-45
    10. 10.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ERRATUM
    11. 11.
      "Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population."
      Devi R.R. , Reena C. , Vijayalakshmi P.
      Mol. Vis.11:846-852(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CTRCT14 MET-28 AND GLY-76
    12. 12.
      "A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family."
      Addison P.K. , Berry V. , Holden K.R. , Espinal D. , Rivera B. , Su H. , Srivastava A.K. , Bhattacharya S.S.
      Mol. Vis.12:791-795(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CTRCT14 TYR-3
    13. 13.
      "The congenital 'ant-egg' cataract phenotype is caused by a missense mutation in connexin46."
      Hansen L. , Yao W. , Eiberg H. , Funding M. , Riise R. , Kjaer K.W. , Hejtmancik J.F. , Rosenberg T.
      Mol. Vis.12:1033-1039(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CTRCT14 SER-11
    14. 14.
      "A novel 'pearl box' cataract associated with a mutation in the connexin 46 (GJA3) gene."
      Guleria K. , Vanita V. , Singh D. , Singh J.R.
      Mol. Vis.13:797-803(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CTRCT14 MET-87
    15. 15.
      "A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family."
      Guleria K. , Sperling K. , Singh D. , Varon R. , Singh J.R. , Vanita V.
      Mol. Vis.13:1657-1665(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CTRCT14 LEU-33
    16. 16.
      "Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)."
      Zhou Z. , Hu S. , Wang B. , Zhou N. , Zhou S. , Ma X. , Qi Y.
      Mol. Vis.16:713-719(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CTRCT14 MET-44
    17. 17.
      "A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family."
      Yao K. , Wang W. , Zhu Y. , Jin C. , Shentu X. , Jiang J. , Zhang Y. , Ni S.
      Hum. Mutat.32:1367-1370(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CTRCT14 ASP-2;CHARACTERIZATION OF VARIANT CTRCT14 ASP-2
    18. 18.
      "A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family."
      Yang G. , Xing B. , Liu G. , Lu X. , Jia X. , Lu X. , Wang X. , Yu H. , Fu Y. , Zhao J.
      Mol. Vis.17:1070-1073(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CTRCT14 ASN-47
    19. 19.
      "A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree."
      Ding X. , Wang B. , Luo Y. , Hu S. , Zhou G. , Zhou Z. , Wang J. , Ma X. , Qi Y.
      Mol. Vis.17:1343-1349(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CTRCT14 SER-187
    20. 20.
      "A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q."
      Bennett T.M. , Shiels A.
      Mol. Vis.17:2255-2262(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CTRCT14 MET-44
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