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)
End	20,161,052 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	57,295,557 bp
RNA expression pattern
	Top expressed in
	myocardium of left ventricle; ; right ventricle; ; tendon of biceps brachii; ; testicle; ; apex of heart; ; right atrium; ; right auricle; ; 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
	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
	2700
	14611
	ENSG00000121743
	ENSMUSG00000048582
	Q9Y6H8
	Q64448
	NM_021954
	NM_001271623; NM_016975
	NP_068773
	NP_001258552; NP_058671
	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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000121743 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000048582 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ "Entrez Gene: GJA3 gap junction protein, alpha 3, 46kDa".
^ 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.

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 2024-03-31). PMID 10746562.{{cite journal}}: CS1 maint: DOI inactive as of March 2024 (link)
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.

This article on a gene on human chromosome 13 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000121743 – Ensembl, May 2017

[refGRCm38Ensembl-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.

[pmid10205266-5] 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.

[pmid7342922-6] 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.

[entrez-7] "Entrez Gene: GJA3 gap junction protein, alpha 3, 46kDa".

[pmid12808044-8] 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.

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Interactions

References

Further reading