GJA3: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''Gap junction alpha-3 protein''' is a [[protein]] that in humans is encoded by the ''GJA3'' [[gene]].<ref name="pmid10205266">{{cite journal |vauthors=Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S | title = Connexin46 mutations in autosomal dominant congenital cataract | journal = Am J Hum Genet | volume = 64 | issue = 5 | pages = 1357–64 |date=May 1999 | pmid = 10205266 | pmc = 1377871 | doi = 10.1086/302383 }}</ref><ref name="pmid7342922">{{cite journal |vauthors=Rosenberg AM, Gole GA | title = Morning Glory Syndrome: a report of two cases | journal = Aust J Ophthalmol | volume = 9 | issue = 4 | pages = 263–5 |date=Jul 1982 | pmid = 7342922 | pmc =  | doi =10.1111/j.1442-9071.1981.tb00919.x  }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: GJA3 gap junction protein, alpha 3, 46kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2700| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
==Interactions==
{{GNF_Protein_box
GJA3 has been shown to [[Protein-protein interaction|interact]] with [[Tight junction protein 1]].<ref name=pmid12808044>{{cite journal |last=Nielsen |first=Peter A |authorlink= |author2=Baruch Amos |author3=Shestopalov Valery I |author4=Giepmans Ben N G |author5=Dunia Irene |author6=Benedetti E Lucio |author7=Kumar Nalin M |date=Jun 2003 |title=Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1) |journal=Mol. Biol. Cell |volume=14 |issue=6 |pages=2470–81 |publisher= |location = United States| issn = 1059-1524| pmid = 12808044 |doi = 10.1091/mbc.E02-10-0637 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |pmc=194895 }}</ref>
| image =
| image_source =
| PDB =  
| Name = Gap junction protein, alpha 3, 46kDa
| HGNCid = 4277
| Symbol = GJA3
| AltSymbols =; CX46; CZP3
| OMIM = 121015
| ECnumber = 
| Homologene = 9670
| MGIid = 95714
| GeneAtlas_image1 = PBB_GE_GJA3_208590_x_at_tn.png
| Function = {{GNF_GO|id=GO:0015285 |text = gap-junction channel activity}}
| Component = {{GNF_GO|id=GO:0005887 |text = integral to plasma membrane}} {{GNF_GO|id=GO:0005922 |text = connexon complex}} {{GNF_GO|id=GO:0016020 |text = membrane}}
  | Process = {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0007267 |text = cell-cell signaling}} {{GNF_GO|id=GO:0007601 |text = visual perception}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2700
    | Hs_Ensembl = ENSG00000121743
    | Hs_RefseqProtein = NP_068773
    | Hs_RefseqmRNA = NM_021954
    | Hs_GenLoc_db =
    | Hs_GenLoc_chr = 13
    | Hs_GenLoc_start = 19614120
    | Hs_GenLoc_end = 19615427
    | Hs_Uniprot = Q9Y6H8
    | Mm_EntrezGene = 14611
    | Mm_Ensembl = ENSMUSG00000048582
    | Mm_RefseqmRNA = NM_016975
    | Mm_RefseqProtein = NP_058671
    | Mm_GenLoc_db =
    | Mm_GenLoc_chr = 14
    | Mm_GenLoc_start = 55989770
    | Mm_GenLoc_end = 55991023
    | Mm_Uniprot = Q3UWF8
  }}
}}
'''Gap junction protein, alpha 3, 46kDa''', also known as '''GJA3''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: GJA3 gap junction protein, alpha 3, 46kDa| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2700| accessdate = }}</ref>


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==References==
{{PBB_Summary
{{reflist}}
| section_title =
| summary_text =
}}


==References==
{{reflist|2}}
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading
*{{cite book|author1=Andrew L Harris |author2=Darren Locke | title = Connexins, A Guide | publisher = Springer | year = 2009 | location = New York | pages = 574 | url = https://www.springer.com/978-1-934115-46-6  | isbn = 978-1-934115-46-6}}
| citations =  
*{{cite journal  |vauthors=Hsieh CL, Kumar NM, Gilula NB, Francke U |title=Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes. |journal=Somat. Cell Mol. Genet. |volume=17 |issue= 2 |pages= 191–200 |year= 1991 |pmid= 1849321 |doi=10.1007/BF01232976 }}
*{{cite journal  | author=Hsieh CL, Kumar NM, Gilula NB, Francke U |title=Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes. |journal=Somat. Cell Mol. Genet. |volume=17 |issue= 2 |pages= 191-200 |year= 1991 |pmid= 1849321 |doi=  }}
*{{cite journal  | author=Willecke K |title=Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes |journal=Eur. J. Cell Biol. |volume=53 |issue= 2 |pages= 275–80 |year= 1991 |pmid= 1964417 |doi=  |name-list-format=vanc| author2=Jungbluth S | author3=Dahl E  | display-authors=3  | last4=Hennemann  | first4=H  | last5=Heynkes  | first5=R  | last6=Grzeschik  | first6=KH  }}
*{{cite journal  | author=Willecke K, Jungbluth S, Dahl E, ''et al.'' |title=Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes. |journal=Eur. J. Cell Biol. |volume=53 |issue= 2 |pages= 275-80 |year= 1991 |pmid= 1964417 |doi=  }}
*{{cite journal  | author=Mackay D |title=A new locus for dominant "zonular pulverulent" cataract, on chromosome 13 |journal=Am. J. Hum. Genet. |volume=60 |issue= 6 |pages= 1474–8 |year= 1997 |pmid= 9199569 |doi=10.1086/515468 | pmc=1716126 |name-list-format=vanc| author2=Ionides A  | author3=Berry V  | display-authors=3  | last4=Moore  | first4=Anthony | last5=Bhattacharya  | first5=Shomi  | last6=Shiels  | first6=Alan }}
*{{cite journal  | author=Rosenberg AM, Gole GA |title=Morning Glory Syndrome: a report of two cases. |journal=Australian journal of ophthalmology |volume=9 |issue= 4 |pages= 263-5 |year= 1982 |pmid= 7342922 |doi=  }}
*{{cite journal  | author=Gong X |title=Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice |journal=Cell |volume=91 |issue= 6 |pages= 833–43 |year= 1998 |pmid= 9413992 |doi= 10.1016/S0092-8674(00)80471-7 |name-list-format=vanc| author2=Li E | author3=Klier G  | display-authors=3  | last4=Huang  | first4=Q  | last5=Wu  | first5=Y  | last6=Lei  | first6=H  | last7=Kumar  | first7=NM  | last8=Horwitz  | first8=J  | last9=Gilula  | first9=NB }}
*{{cite journal | author=Mackay D, Ionides A, Berry V, ''et al.'' |title=A new locus for dominant "zonular pulverulent" cataract, on chromosome 13. |journal=Am. J. Hum. Genet. |volume=60 |issue= 6 |pages= 1474-8 |year= 1997 |pmid= 9199569 |doi=  }}
*{{cite journal  | author=Dunia I |title=Assembly of connexins and MP26 in lens fiber plasma membranes studied by SDS-fracture immunolabeling |journal=J. Cell Sci. |volume=111 |issue= 15|pages= 2109–20 |year= 1998 |pmid= 9664032 |doi=  |name-list-format=vanc| author2=Recouvreur M | author3=Nicolas P  | display-authors=3  | last4=Kumar  | first4=N  | last5=Bloemendal  | first5=H  | last6=Benedetti  | first6=EL }}
*{{cite journal  | author=Gong X, Li E, Klier G, ''et al.'' |title=Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice. |journal=Cell |volume=91 |issue= 6 |pages= 833-43 |year= 1998 |pmid= 9413992 |doi=  }}
*{{cite journal  | author=Rees MI |title=Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3) |journal=Hum. Genet. |volume=106 |issue= 2 |pages= 206–9 |year= 2000 |pmid= 10746562 |doi=10.1007/s004390051029 |name-list-format=vanc| author2=Watts P  | author3=Fenton I  | display-authors=3  | last4=Clarke  | first4=A.  | last5=Snell  | first5=R.G.  | last6=Owen  | first6=M.J.  | last7=Gray  | first7=J. }}
*{{cite journal | author=Dunia I, Recouvreur M, Nicolas P, ''et al.'' |title=Assembly of connexins and MP26 in lens fiber plasma membranes studied by SDS-fracture immunolabeling. |journal=J. Cell. Sci. |volume=111 ( Pt 15) |issue=  |pages= 2109-20 |year= 1998 |pmid= 9664032 |doi=  }}
*{{cite journal  | author=Das Sarma J |title=Multimeric connexin interactions prior to the trans-Golgi network |journal=J. Cell Sci. |volume=114 |issue= Pt 22 |pages= 4013–24 |year= 2002 |pmid= 11739633 |doi=  |name-list-format=vanc| author2=Meyer RA  | author3=Wang F  | display-authors=3  | last4=Abraham | first4=V  | last5=Lo  | first5=CW  | last6=Koval  | first6=M  }}
*{{cite journal  | author=Mackay D, Ionides A, Kibar Z, ''et al.'' |title=Connexin46 mutations in autosomal dominant congenital cataract. |journal=Am. J. Hum. Genet. |volume=64 |issue= 5 |pages= 1357-64 |year= 1999 |pmid= 10205266 |doi= }}
*{{cite journal  |vauthors=Schubert AL, Schubert W, Spray DC, Lisanti MP |title=Connexin family members target to lipid raft domains and interact with caveolin-1 |journal=Biochemistry |volume=41 |issue= 18 |pages= 5754–64 |year= 2002 |pmid= 11980479 |doi=10.1021/bi0121656  }}
*{{cite journal | author=Rees MI, Watts P, Fenton I, ''et al.'' |title=Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). |journal=Hum. Genet. |volume=106 |issue= 2 |pages= 206-9 |year= 2000 |pmid= 10746562 |doi=  }}
*{{cite journal  | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |name-list-format=vanc| author2=Feingold EA  | author3=Grouse LH  | display-authors=3  | last4=Derge  | first4=JG  | last5=Klausner  | first5=RD  | last6=Collins  | first6=FS  | last7=Wagner  | first7=L  | last8=Shenmen  | first8=CM  | last9=Schuler  | first9=GD }}
*{{cite journal  | author=Das Sarma J, Meyer RA, Wang F, ''et al.'' |title=Multimeric connexin interactions prior to the trans-Golgi network. |journal=J. Cell. Sci. |volume=114 |issue= Pt 22 |pages= 4013-24 |year= 2002 |pmid= 11739633 |doi=  }}
*{{cite journal  | author=Nielsen PA |title=Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1) |journal=Mol. Biol. Cell |volume=14 |issue= 6 |pages= 2470–81 |year= 2004 |pmid= 12808044 |doi= 10.1091/mbc.E02-10-0637 | pmc=194895  |name-list-format=vanc| author2=Baruch A  | author3=Shestopalov VI  | display-authors=3  | last4=Giepmans  | first4=BN  | last5=Dunia  | first5=I  | last6=Benedetti  | first6=EL  | last7=Kumar  | first7=NM }}
*{{cite journal | author=Schubert AL, Schubert W, Spray DC, Lisanti MP |title=Connexin family members target to lipid raft domains and interact with caveolin-1. |journal=Biochemistry |volume=41 |issue= 18 |pages= 5754-64 |year= 2002 |pmid= 11980479 |doi=  }}
*{{cite journal  | author=Jiang H |title=A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract |journal=Mol. Vis. |volume=9 |issue=  |pages= 579–83 |year= 2003 |pmid= 14627959 |doi=  |name-list-format=vanc| author2=Jin Y  | author3=Bu L  | display-authors=3  | last4=Zhang  | first4=W  | last5=Liu  | first5=J  | last6=Cui  | first6=B  | last7=Kong  | first7=X  | last8=Hu  | first8=L  }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | author=Dunham A |title=The DNA sequence and analysis of human chromosome 13 |journal=Nature |volume=428 |issue= 6982 |pages= 522–8 |year= 2004 |pmid= 15057823 |doi= 10.1038/nature02379  | pmc=2665288  |name-list-format=vanc| author2=Matthews LH  | author3=Burton J  | display-authors=3  | last4=Ashurst  | first4=J. L.  | last5=Howe  | first5=K. L.  | last6=Ashcroft  | first6=K. J.  | last7=Beare  | first7=D. M.  | last8=Burford  | first8=D. C.  | last9=Hunt  | first9=S. E. }}
*{{cite journal | author=Nielsen PA, Baruch A, Shestopalov VI, ''et al.'' |title=Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1). |journal=Mol. Biol. Cell |volume=14 |issue= 6 |pages= 2470-81 |year= 2004 |pmid= 12808044 |doi= 10.1091/mbc.E02-10-0637 }}
*{{cite journal  |vauthors=Bennett TM, Mackay DS, Knopf HL, Shiels A |title=A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q |journal=Mol. Vis. |volume=10 |issue=  |pages= 376–82 |year= 2004 |pmid= 15208569 |doi=  }}
*{{cite journal  | author=Jiang H, Jin Y, Bu L, ''et al.'' |title=A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract. |journal=Mol. Vis. |volume=9 |issue=  |pages= 579-83 |year= 2003 |pmid= 14627959 |doi=  }}
*{{cite journal  | author=Burdon KP |title=A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance |journal=J. Med. Genet. |volume=41 |issue= 8 |pages= e106–e106 |year= 2004 |pmid= 15286166 |doi= 10.1136/jmg.2004.018333  | pmc=1735867  |name-list-format=vanc| author2=Wirth MG  | author3=Mackey DA  | display-authors=3  | last4=Russell-Eggitt  | first4=IM  | last5=Craig  | first5=JE  | last6=Elder  | first6=JE  | last7=Dickinson  | first7=JL  | last8=Sale  | first8=MM }}
*{{cite journal  | author=Dunham A, Matthews LH, Burton J, ''et al.'' |title=The DNA sequence and analysis of human chromosome 13. |journal=Nature |volume=428 |issue= 6982 |pages= 522-8 |year= 2004 |pmid= 15057823 |doi= 10.1038/nature02379 }}
*{{cite journal  |vauthors=Lin D, Lobell S, Jewell A, Takemoto DJ |title=Differential phosphorylation of connexin46 and connexin50 by H2O2 activation of protein kinase Cgamma |journal=Mol. Vis. |volume=10 |issue=  |pages= 688–95 |year= 2004 |pmid= 15467523 |doi=  }}
*{{cite journal  | author=Bennett TM, Mackay DS, Knopf HL, Shiels A |title=A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q. |journal=Mol. Vis. |volume=10 |issue= |pages= 376-82 |year= 2004 |pmid= 15208569 |doi=  }}
*{{cite journal  | author=Gerhard DS |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928  |name-list-format=vanc| author2=Wagner L  | author3=Feingold EA  | display-authors=3  | last4=Shenmen  | first4=CM  | last5=Grouse  | first5=LH  | last6=Schuler  | first6=G  | last7=Klein  | first7=SL  | last8=Old  | first8=S  | last9=Rasooly  | first9=R }}
*{{cite journal | author=Burdon KP, Wirth MG, Mackey DA, ''et al.'' |title=A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. |journal=J. Med. Genet. |volume=41 |issue= 8 |pages= e106 |year= 2004 |pmid= 15286166 |doi= 10.1136/jmg.2004.018333 }}
*{{cite journal  |vauthors=Devi RR, Reena C, Vijayalakshmi P |title=Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population |journal=Mol. Vis. |volume=11 |issue=  |pages= 846–52 |year= 2006 |pmid= 16254549 |doi=  }}
*{{cite journal  | author=Lin D, Lobell S, Jewell A, Takemoto DJ |title=Differential phosphorylation of connexin46 and connexin50 by H2O2 activation of protein kinase Cgamma. |journal=Mol. Vis. |volume=10 |issue= |pages= 688-95 |year= 2004 |pmid= 15467523 |doi= }}
*{{cite journal  | author=Addison PK |title=A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family |journal=Mol. Vis. |volume=12 |issue=  |pages= 791–5 |year= 2006 |pmid= 16885921 |doi=  |name-list-format=vanc| author2=Berry V  | author3=Holden KR  | display-authors=3  | last4=Espinal  | first4=D  | last5=Rivera  | first5=B  | last6=Su  | first6=H  | last7=Srivastava  | first7=AK  | last8=Bhattacharya | first8=SS }}
*{{cite journal | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | author=Devi RR, Reena C, Vijayalakshmi P |title=Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population. |journal=Mol. Vis. |volume=11 |issue=  |pages= 846-52 |year= 2006 |pmid= 16254549 |doi= }}
*{{cite journal | author=Addison PK, Berry V, Holden KR, ''et al.'' |title=A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family. |journal=Mol. Vis. |volume=12 |issue=  |pages= 791-5 |year= 2006 |pmid= 16885921 |doi=  }}
}}
{{refend}}
{{refend}}


{{protein-stub}}
{{Ion channels|g4}}
{{WikiDoc Sources}}
 
[[Category:Connexins]]
 
 
{{gene-13-stub}}

Revision as of 20:00, 8 November 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Gap junction alpha-3 protein is a protein that in humans is encoded by the GJA3 gene.[1][2][3]

Interactions

GJA3 has been shown to interact with Tight junction protein 1.[4]

References

  1. ↑ Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S (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.
  2. ↑ Rosenberg AM, Gole GA (Jul 1982). "Morning Glory Syndrome: a report of two cases". Aust J Ophthalmol. 9 (4): 263–5. doi:10.1111/j.1442-9071.1981.tb00919.x. PMID 7342922.
  3. ↑ "Entrez Gene: GJA3 gap junction protein, alpha 3, 46kDa".
  4. ↑ Nielsen, Peter A; Baruch Amos; Shestopalov Valery I; Giepmans Ben N G; Dunia Irene; Benedetti E Lucio; Kumar Nalin M (Jun 2003). "Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1)". Mol. Biol. Cell. United States. 14 (6): 2470–81. doi:10.1091/mbc.E02-10-0637. ISSN 1059-1524. PMC 194895. PMID 12808044.

Further reading


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