GJA3

GJA3
식별자
별칭	GJA3, CTRCT14, CX46, CZP3, 갭 접합 단백질 알파 3
외부 ID	OMIM: 121015 MGI: 95714 HomoloGene: 9670 GeneCard: GJA3
유전자 위치(인간)
쳇.	13번 염색체(인간)
끝	20,195,052 bp
유전자 위치(마우스)
쳇.	14번 염색체(쥐)
끝	57,295,557 bp
RNA 표현 패턴
	표현된 상단
	하트; ; 우심실; ; 심근; ; 좌심실; ; 힘줄; ; 콩팥을;
	추가 참조 표현식 데이터
	추가 참조 표현식 데이터
유전자 온톨로지
분자함수	갭 접속 채널 활동;
셀룰러 컴포넌트	막의 적분 성분; 갭 접합; 세포 접합; 플라즈마 막; 코넥신 콤플렉스; 막으로 막다;
생물학적 과정	세포 통신; 세포 세포 신호; 트랜스엠브레인 수송; 시각적 지각;
	출처:아미고 / 퀵고
직교체
	2700
	14611
	ENSG00000121743
	ENSMUSG00000048582
	Q9Y6H8
	Q6448
	NM_021954
	NM_001271623; NM_016975
	NP_068773
	NP_001258552; NP_058671
	위키다타
인간 보기/편집	마우스 보기/편집

갭 접합 알파-3 단백질은 인간에게 GJA3 유전자에 의해 암호화된 단백질이다.^[5]^[6]^[7]

상호작용

GJA3는 Tight 접합 단백질 1과 상호작용하는 것으로 나타났다.^[8]

참조

^ ^a ^b ^c GRCh38: 앙상블 릴리스 89: ENSG00000121743 - 앙상블, 2017년 5월
^ ^a ^b ^c GRCm38: 앙상블 릴리스 89: ENSMUSG000048582 - 앙상블, 2017년 5월
^ "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, 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.
^ 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, 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. 14 (6): 2470–81. doi:10.1091/mbc.E02-10-0637. ISSN 1059-1524. PMC 194895. PMID 12808044.

추가 읽기

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, 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.
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. doi:10.1086/515468. PMC 1716126. 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. doi:10.1016/S0092-8674(00)80471-7. 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 (15): 2109–20. doi:10.1242/jcs.111.15.2109. PMID 9664032.
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. doi:10.1007/s004390051029. 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. doi:10.1021/bi0121656. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. 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. PMC 194895. 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. 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, 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, 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, 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.

13번 염색체의 유전자에 관한 이 기사는 단조롭다.위키피디아를 확장하여 도울 수 있다.

[refGRCh38Ensembl-1] GRCh38: 앙상블 릴리스 89: ENSG00000121743 - 앙상블, 2017년 5월

[refGRCm38Ensembl-2] GRCm38: 앙상블 릴리스 89: ENSMUSG000048582 - 앙상블, 2017년 5월

[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, 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.

[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, 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. 14 (6): 2470–81. doi:10.1091/mbc.E02-10-0637. ISSN 1059-1524. PMC 194895. PMID 12808044.

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GJA3

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