GJA3

From Wikipedia, the free encyclopedia

Gap junction protein, alpha 3, 46kDa

Identifiers

GJA3; CX46; CZP3

External IDs

OMIM: 121015 MGI: 95714 HomoloGene: 9670

Gene ontology
Molecular Function:	• gap-junction channel activity
Cellular Component:	• integral to plasma membrane • connexon complex • membrane
Biological Process:	• transport • cell-cell signaling • visual perception

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_021954 (mRNA)
NP_068773 (protein)

NM_016975 (mRNA)
NP_058671 (protein)

Location

Chr 13: 19.61 - 19.62 Mb

Chr 14: 55.99 - 55.99 Mb

Pubmed search

[1]

[2]

Gap junction protein, alpha 3, 46kDa, also known as GJA3, is a human gene.^[1]

[edit] References

^ Entrez Gene: GJA3 gap junction protein, alpha 3, 46kDa.

[edit] Further reading

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. PMID 1849321.
Willecke K, Jungbluth S, Dahl E, et al. (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.
Rosenberg AM, Gole GA (1982). "Morning Glory Syndrome: a report of two cases.". Australian journal of ophthalmology 9 (4): 263–5. PMID 7342922.
Mackay D, Ionides A, Berry V, et al. (1997). "A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.". Am. J. Hum. Genet. 60 (6): 1474–8. PMID 9199569.
Gong X, Li E, Klier G, et al. (1998). "Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice.". Cell 91 (6): 833–43. PMID 9413992.
Dunia I, Recouvreur M, Nicolas P, et al. (1998). "Assembly of connexins and MP26 in lens fiber plasma membranes studied by SDS-fracture immunolabeling.". J. Cell. Sci. 111 ( Pt 15): 2109–20. PMID 9664032.
Mackay D, Ionides A, Kibar Z, et al. (1999). "Connexin46 mutations in autosomal dominant congenital cataract.". Am. J. Hum. Genet. 64 (5): 1357–64. PMID 10205266.
Rees MI, Watts P, Fenton I, 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. PMID 10746562.
Das Sarma J, Meyer RA, Wang F, et al. (2002). "Multimeric connexin interactions prior to the trans-Golgi network.". J. Cell. Sci. 114 (Pt 22): 4013–24. 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. PMID 11980479.
Strausberg RL, Feingold EA, Grouse LH, 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. doi:10.1073/pnas.242603899. PMID 12477932.
Nielsen PA, Baruch A, Shestopalov VI, 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. PMID 12808044.
Jiang H, Jin Y, Bu L, 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, et al. (2004). "The DNA sequence and analysis of human chromosome 13.". Nature 428 (6982): 522–8. doi:10.1038/nature02379. 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, 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. 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, 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. 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, 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.