Property Summary

NCBI Gene PubMed Count 131
Grant Count 131
R01 Count 45
Funding $15,572,206.6
PubMed Score 454.25
PubTator Score 288.30

Knowledge Summary

Patent (14,174)

Expression

  Differential Expression (7)

Disease log2 FC p
malignant mesothelioma -1.100 0.000
osteosarcoma 1.570 0.000
tuberculosis and treatment for 6 months -1.400 0.000
lung cancer -1.400 0.001
atypical teratoid/rhabdoid tumor -1.300 0.000
group 4 medulloblastoma -1.200 0.003
ovarian cancer -1.100 0.000

Synonym

Accession O76090 A8K0W6 B7Z3J8 B7Z736 O75904 Q53YQ9 Q8IUR9 Q8IZ80
Symbols ARB
BMD
BEST
RP50
VMD2
TU15B

Gene

Gene RIF (101)

PMID Text
26849243 Progressive posterior chorioretinal changes occurred over time in the initial ADVIRC proband, leading to visual loss. The causative mutation in this patient falls in the transmembrane domain of the BEST1 protein, with unclear functional consequences.
26720466 HEK293T cells transfected with the identified BEST1 mutant showed significantly small currents compared to those transfected with the wild-type gene, whereas cells cotransfected with mutant and wild-type BEST1 showed good chloride conductance
26521045 Nuclear spheres modulate the expression of BEST1 and GADD45G
26201355 Twelve different variants, two of which (p.S7N and p.P346H) were novel, were identified in the 13 Japanese families with Best's vitelliform macular dystrophy.
26200502 Best1 I366fsX18 differs from Best1 in that it lacks most of the cytosolic C-terminal domain, suggesting that the loss of this region contributes significantly to the pathogenesis of ARB in this patient.
26099059 Genetic sequence analysis of BEST1 is important in the diagnosis of Best vitelliform dystrophy, particularly in unusual cases, and helps to further our knowledge and understanding of this disease.
25941382 Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.
25936525 Two novel BEST1 mutations and associated clinical observations have been found in two unrelated patients with Best vitelliform macular dystrophy.
25878489 BEST1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium.
25545482 Three novel BEST1 mutations are described, suggesting that many deleterious variants in BEST1 resulting in haploinsufficiency are still unknown.
More...

AA Sequence

MTITYTSQVANARLGSFSRLLLCWRGSIYKLLYGEFLIFLLCYYIIRFIYRLALTEEQQLMFEKLTLYCD      1 - 70
SYIQLIPISFVLGFYVTLVVTRWWNQYENLPWPDRLMSLVSGFVEGKDEQGRLLRRTLIRYANLGNVLIL     71 - 140
RSVSTAVYKRFPSAQHLVQAGFMTPAEHKQLEKLSLPHNMFWVPWVWFANLSMKAWLGGRIRDPILLQSL    141 - 210
LNEMNTLRTQCGHLYAYDWISIPLVYTQVVTVAVYSFFLTCLVGRQFLNPAKAYPGHELDLVVPVFTFLQ    211 - 280
FFFYVGWLKVAEQLINPFGEDDDDFETNWIVDRNLQVSLLAVDEMHQDLPRMEPDMYWNKPEPQPPYTAA    281 - 350
SAQFRRASFMGSTFNISLNKEEMEFQPNQEDEEDAHAGIIGRFLGLQSHDHHPPRANSRTKLLWPKRESL    351 - 420
LHEGLPKNHKAAKQNVRGQEDNKAWKLKAVDAFKSAPLYQRPGYYSAPQTPLSPTPMFFPLEPSAPSKLH    421 - 490
SVTGIDTKDKSLKTVSSGAKKSFELLSESDGALMEHPEVSQVRRKTVEFNLTDMPEIPENHLKEPLEQSP    491 - 560
TNIHTTLKDHMDPYWALENRDEAHS                                                 561 - 585
//

Text Mined References (131)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26849243 2016 Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1.
26720466 2015 A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
26521045 2016 Nuclear spheres modulate the expression of BEST1 and GADD45G.
26201355 2015 Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.
26200502 2015 Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.
26099059 2015 Novel Mutation in BEST1 Associated with Atypical Best Vitelliform Dystrophy.
25941382 2015 Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.
25936525 2015 Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy.
25878489 2015 Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium.
More...