GJA3

GJA3
Identifiers
Aliases	GJA3 , CTRCT14, CX46, CZP3, gap junction protein alpha 3
External IDs	OMIM: 121015; MGI: 95714; HomoloGene: 9670; GeneCards: GJA3; OMA:GJA3 - orthologs
Gene location (Human) Chr. Chromosome 13 (human) [1] Band 13q12.11 Start 20,138,255 bp [1] End 20,161,052 bp [1]
Gene location (Mouse) Chr. Chromosome 14 (mouse) [2] Band 14 C3|14 29.82 cM Start 57,271,917 bp [2] End 57,295,557 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in myocardium of left ventricle right ventricle tendon of biceps brachii testicle apex of heart right atrium right auricle of heart secondary oocyte right coronary artery islet of Langerhans Top expressed in epithelium of lens renal corpuscle atrioventricular valve hair follicle aortic valve atrium embryo myocardium of ventricle ciliary body lip More reference expression data BioGPS More reference expression data
Gene ontology Molecular function gap junction channel activity Cellular component integral component of membrane gap junction cell junction plasma membrane connexin complex membrane Biological process cell communication cell-cell signaling transmembrane transport visual perception Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2700 14611 Ensembl ENSG00000121743 ENSMUSG00000048582 UniProt Q9Y6H8 Q64448 RefSeq (mRNA) NM_021954 NM_001271623 NM_016975 RefSeq (protein) NP_068773 NP_001258552 NP_058671 Location (UCSC) Chr 13: 20.14 – 20.16 Mb Chr 14: 57.27 – 57.3 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Gap junction alpha-3 protein is a protein that in humans is encoded by the GJA3 gene. ^{[5] [6] [7]}

Interactions

GJA3 has been shown to interact with Tight junction protein 1. ^[8]

References

1. GRCh38: Ensembl release 89: ENSG00000121743 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000048582 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, et al. (May 1999). "Connexin46 mutations in autosomal dominant congenital cataract". Am J Hum Genet. 64 (5): 1357–64. doi:10.1086/302383. PMC   1377871 . PMID   10205266.
6. Rosenberg AM, Gole GA (Jul 1982). "Morning Glory Syndrome: a report of two cases". Australian and New Zealand Journal of Ophthalmology. 9 (4): 263–5. doi:10.1111/j.1442-9071.1981.tb00919.x. PMID   7342922.
7. "Entrez Gene: GJA3 gap junction protein, alpha 3, 46kDa".
8. Nielsen PA, Baruch Amos, Shestopalov Valery I, Giepmans Ben N G, Dunia Irene, Benedetti E Lucio, et al. (Jun 2003). "Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1)". Mol. Biol. Cell. 14 (6): 2470–81. doi:10.1091/mbc.E02-10-0637. ISSN   1059-1524. PMC   194895 . PMID   12808044.

Further reading

• Andrew L Harris, Darren Locke (2009). Connexins, A Guide. New York: Springer. p. 574. ISBN   978-1-934115-46-6.
• Hsieh CL, Kumar NM, Gilula NB, Francke U (1991). "Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes". Somat. Cell Mol. Genet. 17 (2): 191–200. doi:10.1007/BF01232976. PMID   1849321. S2CID   44622463.
• Willecke K, Jungbluth S, Dahl E, Hennemann H, Heynkes R, Grzeschik KH (1991). "Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes". Eur. J. Cell Biol. 53 (2): 275–80. PMID   1964417.
• Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S, Shiels A (1997). "A new locus for dominant "zonular pulverulent" cataract, on chromosome 13". Am. J. Hum. Genet. 60 (6): 1474–8. doi:10.1086/515468. PMC   1716126 . PMID   9199569.
• Gong X, Li E, Klier G, Huang Q, Wu Y, Lei H, et al. (1998). "Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice". Cell. 91 (6): 833–43. doi: 10.1016/S0092-8674(00)80471-7 . PMID   9413992.
• Dunia I, Recouvreur M, Nicolas P, Kumar N, Bloemendal H, Benedetti EL (1998). "Assembly of connexins and MP26 in lens fiber plasma membranes studied by SDS-fracture immunolabeling". J. Cell Sci. 111 (15): 2109–20. doi: 10.1242/jcs.111.15.2109 . PMID   9664032.
• Rees MI, Watts P, Fenton I, Clarke A, Snell R, Owen M, et al. (2000). "Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)". Hum. Genet. 106 (2): 206–9. doi:10.1007/s004390051029 (inactive 12 July 2025). PMID   10746562.
• Das Sarma J, Meyer RA, Wang F, Abraham V, Lo CW, Koval M (2002). "Multimeric connexin interactions prior to the trans-Golgi network". J. Cell Sci. 114 (Pt 22): 4013–24. doi:10.1242/jcs.114.22.4013. PMID   11739633.
• Schubert AL, Schubert W, Spray DC, Lisanti MP (2002). "Connexin family members target to lipid raft domains and interact with caveolin-1". Biochemistry. 41 (18): 5754–64. doi:10.1021/bi0121656. PMID   11980479.
• Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, Collins FS, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Nielsen PA, Baruch A, Shestopalov VI, Giepmans BN, Dunia I, Benedetti EL, et al. (2004). "Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1)". Mol. Biol. Cell. 14 (6): 2470–81. doi:10.1091/mbc.E02-10-0637. PMC   194895 . PMID   12808044.
• Jiang H, Jin Y, Bu L, Zhang W, Liu J, Cui B, et al. (2003). "A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract". Mol. Vis. 9: 579–83. PMID   14627959.
• Dunham A, Matthews LH, Burton J, Ashurst JL, Howe KL, Ashcroft KJ, et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. Bibcode:2004Natur.428..522D. doi:10.1038/nature02379. PMC   2665288 . PMID   15057823.
• Bennett TM, Mackay DS, Knopf HL, Shiels A (2004). "A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q". Mol. Vis. 10: 376–82. PMID   15208569.
• Burdon KP, Wirth MG, Mackey DA, Russell-Eggitt IM, Craig JE, Elder JE, et al. (2004). "A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance". J. Med. Genet. 41 (8): e106. doi:10.1136/jmg.2004.018333. PMC   1735867 . PMID   15286166.
• Lin D, Lobell S, Jewell A, Takemoto DJ (2004). "Differential phosphorylation of connexin46 and connexin50 by H2O2 activation of protein kinase Cgamma". Mol. Vis. 10: 688–95. PMID   15467523.
• Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Devi RR, Reena C, Vijayalakshmi P (2006). "Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population". Mol. Vis. 11: 846–52. PMID   16254549.
• Addison PK, Berry V, Holden KR, Espinal D, Rivera B, Su H, et al. (2006). "A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family". Mol. Vis. 12: 791–5. PMID   16885921.