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BEST1 / BEST / Bestrophin

bestrophin 1

BEST1 / BEST / Bestrophin is a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.

Gene Name: bestrophin 1
Family/Subfamily: Ion channel , Bestrophin
Synonyms: BEST1, ARB, Best1V1Delta2, Bestrophin-1, BEST, Best disease, Bestrophin, Bestrophin 1, BMD, Hbest1, VMD2, RP50, TU15B
Target Sequences: NM_004183 NP_004174.1 O76090

Publications (10)

1
Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Marmorstein AD, Marmorstein LY, Rayborn M, Wang X, Hollyfield JG, Petrukhin K. Proceedings of the National Academy of Sciences of the United States of America. 2000 97:12758-63. (ICC, WB, IP, IHC-Fr; Human, Pig) [PubMed:11050159] [PMC:PMC18837]
2
Bestrophin interacts physically and functionally with protein phosphatase 2A. Marmorstein LY, McLaughlin PJ, Stanton JB, Yan L, Crabb JW, Marmorstein AD. The Journal of biological chemistry. 2002 277:30591-7. (WB; Pig) [PubMed:12058047]
3
Derivation and comparative assessment of retinal pigment epithelium from human embryonic stem cells using transcriptomics. Klimanskaya I, Hipp J, Rezai KA, West M, Atala A, Lanza R. Cloning and stem cells. 2004 6:217-45. (ICC; Human) [PubMed:15671670]
4
Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Guziewicz KE, Zangerl B, Lindauer SJ, Mullins RF, Sandmeyer LS, Grahn BH, Stone EM, Acland GM, Aguirre GD. Investigative ophthalmology & visual science. 2007 48:1959-67. (ICC, WB; Dog) [PubMed:17460247] [PMC:PMC1931491]
5
Hemangioblastic derivatives from human induced pluripotent stem cells exhibit limited expansion and early senescence. Feng Q, Lu SJ, Klimanskaya I, Gomes I, Kim D, Chung Y, Honig GR, Kim KS, Lanza R. Stem cells (Dayton, Ohio). 2010 28:704-12. (ICC; Human) [PubMed:20155819]
6
Bestrophin 2 is expressed in human non-pigmented ciliary epithelium but not retinal pigment epithelium. Zhang Y, Patil RV, Marmorstein AD. Molecular vision. 2010 16:200-6. (WB; Human) [PubMed:20157619] [PMC:PMC2820107]
7
Equivalence of conventionally-derived and parthenote-derived human embryonic stem cells. Harness JV, Turovets NA, Seiler MJ, Nistor G, Altun G, Agapova LS, Ferguson D, Laurent LC, Loring JF, Keirstead HS. PloS one. 2011 6:e14499. (ICC, WB; Human) [PubMed:21249129] [PMC:PMC3017547]
8
Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies. Guziewicz KE, Slavik J, Lindauer SJ, Aguirre GD, Zangerl B. Investigative ophthalmology & visual science. 2011 52:4497-505. (WB; Dog) [PubMed:21498618] [PMC:PMC3175949]
9
Generation of retinal pigment epithelial cells from human embryonic stem cell-derived spherical neural masses. Cho MS, Kim SJ, Ku SY, Park JH, Lee H, Yoo DH, Park UC, Song SA, Choi YM, Yu HG. Stem cell research. 2012 9:101-9. (ICC; Human) [PubMed:22683799]
10
The culture and maintenance of functional retinal pigment epithelial monolayers from adult human eye. Blenkinsop TA, Salero E, Stern JH, Temple S. Methods in molecular biology (Clifton, N.J.). 2013 945:45-65. [PubMed:23097100]
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Proteins (7)
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BEST1 / BEST / Bestrophin (7)
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BEST1 / BEST / Bestrophin Protein - 12.5% SDS-PAGE Stained with Coomassie Blue.
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Wheat Germ Extract
GST, N-terminus
10 µg/$479; 25 µg/$670
BEST1 / BEST / Bestrophin Protein - Western validation with an anti-DDK antibody * L: Control HEK293 lysate R: Over-expression lysate
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293T Cells
Myc-DDK (Flag)
67.5 kDa
20 µg/$215
BEST1 / BEST / Bestrophin Protein - 12.5% SDS-PAGE of human BEST1 stained with Coomassie Blue
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Wheat Germ Extract
GST
95.5 kDa
10 µg/$479; 25 µg/$670
BEST1 / BEST / Bestrophin Protein - Recombinant Bestrophin 1 (BEST1) by SDS-PAGE
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E. coli
His-GST, N-terminus
63.6kDa
10 µg/$269; 50 µg/$370; 200 µg/$737; 100 µg/$590; 1 mg/$1,779; 500 µg/$1,345; 5 mg/$2,736; 2 mg/$1,959
BEST1 / BEST / Bestrophin Protein
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E. coli
His
100 µg/$361; 500 µg/$739; 20 µg/$261
BEST1 / BEST / Bestrophin Protein - Western validation with an anti-DDK antibody * L: Control HEK293 lysate R: Over-expression lysate
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HEK 293 Cells
Myc-DDK (Flag)
67.5 kDa
100 µg/$710
BEST1 / BEST / Bestrophin Protein - Purified recombinant protein BEST1 was analyzed by SDS-PAGE gel and Coomassie Blue Staining
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HEK 293 Cells
Myc-DDK (Flag)
67.5 kDa
20 µg/$1,107
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The data on this page has been compiled from LifeSpan internal sources, the National Center for Biotechnology Information (NCBI), and The Universal Protein Resource (UniProt).