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GJA3

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

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	20,138,255bp^[1]
Band	13q12.11	End	20,161,052bp^[1]

Gene location (Mouse)

Chr.	Chromosome 14 (mouse)^[2]

Band	14 C3\|14 29.82 cM	Start	57,271,917bp^[2]
Band	14 C3\|14 29.82 cM	End	57,295,557bp^[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

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 aprotein that in humans is encoded by theGJA3gene.^[5]^[6]^[7]

Interactions

[edit]

GJA3 has been shown tointeract withTight junction protein 1.^[8]

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000121743 –Ensembl, May 2017
^^a ^b ^cGRCm38: 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 12 July 2025).PMID 10746562.{{cite journal}}: CS1 maint: DOI inactive as of July 2025 (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.

Membrane transport protein:ion channels (TC 1A)

Ca²⁺:Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3
Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺:Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ
Proton-gated	Amiloride-sensitive cation channel 1 2 3 4
Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺:Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1
Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1
Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18
Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker (gene)

Miscellaneous

Cl⁻:Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B
H⁺:Proton channel	HVCN1
M⁺:CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4
M⁺:TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6
H₂O (+solutes):Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family
Cytoplasm:Gap junction	Connexin A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4 Innexin

By gating mechanism

Ion channel class	Ligand-gated Light-gated Voltage-gated Stretch-activated

see alsodisorders

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