Showing Protein Bestrophin-1 (HMDBP07424)

• 13132

1. TU15B
2. Vitelliform macular dystrophy protein 2

1. Cell membrane
2. Multi-pass membrane protein
3. Basolateral cell membrane

>1758 bp
ATGACCATCACTTACACAAGCCAAGTGGCTAATGCCCGCTTAGGCTCCTTCTCCCGCCTG
CTGCTGTGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTTCTTAATCTTCCTG
CTCTGCTACTACATCATCCGCTTTATTTATAGGCTGGCCCTCACGGAAGAACAACAGCTG
ATGTTTGAGAAACTGACTCTGTATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTC
GTGCTGGGCTTCTACGTGACGCTGGTCGTGACCCGCTGGTGGAACCAGTACGAGAACCTG
CCGTGGCCCGACCGCCTCATGAGCCTGGTGTCGGGCTTCGTCGAAGGCAAGGACGAGCAA
GGCCGGCTGCTGCGGCGCACGCTCATCCGCTACGCCAACCTGGGCAACGTGCTCATCCTG
CGCAGCGTCAGCACCGCAGTCTACAAGCGCTTCCCCAGCGCCCAGCACCTGGTGCAAGCA
GGCTTTATGACTCCGGCAGAACACAAGCAGTTGGAGAAACTGAGCCTACCACACAACATG
TTCTGGGTGCCCTGGGTGTGGTTTGCCAACCTGTCAATGAAGGCGTGGCTTGGAGGTCGA
ATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAACGAGATGAACACCTTGCGTACTCAG
TGTGGACACCTGTATGCCTACGACTGGATTAGTATCCCACTGGTGTATACACAGGTGGTG
ACTGTGGCGGTGTACAGCTTCTTCCTGACTTGTCTAGTTGGGCGGCAGTTTCTGAACCCA
GCCAAGGCCTACCCTGGCCATGAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAG
TTCTTCTTCTATGTTGGCTGGCTGAAGGTGGCAGAGCAGCTCATCAACCCCTTTGGAGAG
GATGATGATGATTTTGAGACCAACTGGATTGTCGACAGGAATTTGCAGGTGTCCCTGTTG
GCTGTGGATGAGATGCACCAGGACCTGCCTCGGATGGAGCCGGACATGTACTGGAATAAG
CCCGAGCCACAGCCCCCCTACACAGCTGCTTCCGCCCAGTTCCGTCGAGCCTCCTTTATG
GGCTCCACCTTCAACATCAGCCTGAACAAAGAGGAGATGGAGTTCCAGCCCAATCAGGAG
GACGAGGAGGATGCTCACGCTGGCATCATTGGCCGCTTCCTAGGCCTGCAGTCCCATGAT
CACCATCCTCCCAGGGCAAACTCAAGGACCAAACTACTGTGGCCCAAGAGGGAATCCCTT
CTCCACGAGGGCCTGCCCAAAAACCACAAGGCAGCCAAACAGAACGTTAGGGGCCAGGAA
GACAACAAGGCCTGGAAGCTTAAGGCTGTGGACGCCTTCAAGTCTGCCCCACTGTATCAG
AGGCCAGGCTACTACAGTGCCCCACAGACGCCCCTCAGCCCCACTCCCATGTTCTTCCCC
CTAGAACCATCAGCGCCGTCAAAGCTTCACAGTGTCACAGGCATAGACACCAAAGACAAA
AGCTTAAAGACTGTGAGTTCTGGGGCCAAGAAAAGTTTTGAATTGCTCTCAGAGAGCGAT
GGGGCCTTGATGGAGCACCCAGAAGTATCTCAAGTGAGGAGGAAAACTGTGGAGTTTAAC
CTGACGGATATGCCAGAGATCCCCGAAAATCACCTCAAAGAACCTTTGGAACAATCACCA
ACCAACATACACACTACACTCAAAGATCACATGGATCCTTATTGGGCCTTGGAAAACAGG
GATGAAGCACATTCCTAA

• Bestrophin (PF01062 )

• None

• 26-46
• 71-91
• 179-199
• 271-291

>Bestrophin-1
MTITYTSQVANARLGSFSRLLLCWRGSIYKLLYGEFLIFLLCYYIIRFIYRLALTEEQQL
MFEKLTLYCDSYIQLIPISFVLGFYVTLVVTRWWNQYENLPWPDRLMSLVSGFVEGKDEQ
GRLLRRTLIRYANLGNVLILRSVSTAVYKRFPSAQHLVQAGFMTPAEHKQLEKLSLPHNM
FWVPWVWFANLSMKAWLGGRIRDPILLQSLLNEMNTLRTQCGHLYAYDWISIPLVYTQVV
TVAVYSFFLTCLVGRQFLNPAKAYPGHELDLVVPVFTFLQFFFYVGWLKVAEQLINPFGE
DDDDFETNWIVDRNLQVSLLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAASAQFRRASFM
GSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRTKLLWPKRESL
LHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAPQTPLSPTPMFFP
LEPSAPSKLHSVTGIDTKDKSLKTVSSGAKKSFELLSESDGALMEHPEVSQVRRKTVEFN
LTDMPEIPENHLKEPLEQSPTNIHTTLKDHMDPYWALENRDEAHS

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4. Marquardt A, Stohr H, Passmore LA, Kramer F, Rivera A, Weber BH: Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet. 1998 Sep;7(9):1517-25. [PubMed:9700209 ]
5. Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C: Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998 Jul;19(3):241-7. [PubMed:9662395 ]
6. Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau KW, Nathans J: Structure-function analysis of the bestrophin family of anion channels. J Biol Chem. 2003 Oct 17;278(42):41114-25. Epub 2003 Aug 7. [PubMed:12907679 ]
7. Sun H, Tsunenari T, Yau KW, Nathans J: The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A. 2002 Mar 19;99(6):4008-13. [PubMed:11904445 ]
8. Qu Z, Hartzell HC: Bestrophin Cl- channels are highly permeable to HCO3-. Am J Physiol Cell Physiol. 2008 Jun;294(6):C1371-7. doi: 10.1152/ajpcell.00398.2007. Epub 2008 Apr 9. [PubMed:18400985 ]
9. Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD: Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009 Nov;85(5):581-92. doi: 10.1016/j.ajhg.2009.09.015. Epub 2009 Oct 22. [PubMed:19853238 ]
10. Caldwell GM, Kakuk LE, Griesinger IB, Simpson SA, Nowak NJ, Small KW, Maumenee IH, Rosenfeld PJ, Sieving PA, Shows TB, Ayyagari R: Bestrophin gene mutations in patients with Best vitelliform macular dystrophy. Genomics. 1999 May 15;58(1):98-101. [PubMed:10331951 ]
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12. Allikmets R, Seddon JM, Bernstein PS, Hutchinson A, Atkinson A, Sharma S, Gerrard B, Li W, Metzker ML, Wadelius C, Caskey CT, Dean M, Petrukhin K: Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. Hum Genet. 1999 Jun;104(6):449-53. [PubMed:10453731 ]
13. Palomba G, Rozzo C, Angius A, Pierrottet CO, Orzalesi N, Pirastu M: A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case. Am J Ophthalmol. 2000 Feb;129(2):260-2. [PubMed:10682987 ]
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15. Marchant D, Gogat K, Boutboul S, Pequignot M, Sternberg C, Dureau P, Roche O, Uteza Y, Hache JC, Puech B, Puech V, Dumur V, Mouillon M, Munier FL, Schorderet DF, Marsac C, Dufier JL, Abitbol M: Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy. Hum Mutat. 2001 Mar;17(3):235. [PubMed:11241846 ]
16. Eksandh L, Bakall B, Bauer B, Wadelius C, Andreasson S: Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. Ophthalmic Genet. 2001 Jun;22(2):107-15. [PubMed:11449320 ]
17. Yanagi Y, Sekine H, Mori M: Identification of a novel VMD2 mutation in Japanese patients with Best disease. Ophthalmic Genet. 2002 Jun;23(2):129-33. [PubMed:12187431 ]
18. Marchant D, Gogat K, Dureau P, Sainton K, Sternberg C, Gadin S, Dollfus H, Brasseur G, Hache JC, Dumur V, Puech V, Munier F, Schorderet DF, Marsac C, Menasche M, Dufier JL, Abitbol M: Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy. Ophthalmic Genet. 2002 Sep;23(3):167-74. [PubMed:12324875 ]
19. Kramer F, Mohr N, Kellner U, Rudolph G, Weber BH: Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). Hum Mutat. 2003 Nov;22(5):418. [PubMed:14517959 ]
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23. Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC: Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet. 2008 Jan;82(1):19-31. doi: 10.1016/j.ajhg.2007.08.004. [PubMed:18179881 ]
24. Atchaneeyasakul LO, Jinda W, Sakolsatayadorn N, Trinavarat A, Ruangvoravate N, Thanasombatskul N, Thongnoppakhun W, Limwongse C: Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. Ophthalmic Genet. 2008 Sep;29(3):139-44. doi: 10.1080/13816810802087394. [PubMed:18766995 ]
25. Boon CJ, Theelen T, Hoefsloot EH, van Schooneveld MJ, Keunen JE, Cremers FP, Klevering BJ, Hoyng CB: Clinical and molecular genetic analysis of best vitelliform macular dystrophy. Retina. 2009 Jun;29(6):835-47. doi: 10.1097/IAE.0b013e31819d4fda. [PubMed:19357557 ]