Protein Domain : IPR021134

Type:  Family Name:  Bestrophin/UPF0187
Description:  Bestrophin is a 68kDa basolateral plasma membrane protein expressed in retinal pigment epithelial cells (RPE). It is encoded by the VMD2 gene, which is mutated in Best macular dystrophy, a disease characterised by a depressed light peak in the electrooculogram []. VMD2 encodes a 585-amino acid protein with an approximate mass of 68 kDa which has been designated bestrophin. Bestrophin shares homology with the Caenorhabditis elegansRFP gene family, named for the presence of a conserved arginine (R), phenylalanine (F), proline (P), amino acid sequence motif. Bestrophin is a plasma membrane protein, localised to the basolateral surface of RPE cells consistent with a role for bestrophin in the generation or regulation of the EOG light peak. Bestrophin and other RFP family members represent a new class of chloride channels, indicating a direct role for bestrophin in generating the light peak []. The VMD2 gene underlying Best disease was shown to represent the first human member of the RFP-TM protein family. More than 97% of the disease-causing mutations are located in the N-terminal RFP-TM domain implying important functional properties [].This entry also includes a number of hypothetical proteins belonging to protein family UPF0187. Short Name:  Bestrophin/UPF0187

1 Child Features

DB identifier Type Name
IPR000615 Family Bestrophin

0 Contains

1 Cross References


0 Found In

0 GO Annotation

0 Parent Features

280 Proteins

DB identifier UniProt Accession Secondary Identifier Organism Name Length
65166 D8QSV1 PAC:15403270 Selaginella moellendorffii 309  
evm.model.supercontig_18.243 PAC:16411397 Carica papaya 413  
30174.m009017 B9RDQ9 PAC:16822659 Ricinus communis 417  
GSVIVT01026895001 PAC:17834448 Vitis vinifera 339  
orange1.1g015152m A0A067H5D3 PAC:18137241 Citrus sinensis 412  
orange1.1g017883m A0A067HDZ2 PAC:18137242 Citrus sinensis 364  
orange1.1g017987m A0A067HE65 PAC:18137243 Citrus sinensis 363  
orange1.1g021478m A0A067H2Q4 PAC:18137244 Citrus sinensis 312  
orange1.1g021473m A0A067H2Q4 PAC:18137245 Citrus sinensis 312  
AT2G45870.1 O80832 PAC:19642530 Arabidopsis thaliana 410  
AT3G61320.1 Q9M2D2 PAC:19663645 Arabidopsis thaliana 410  
Thhalv10006010m V4ND60 PAC:20190379 Eutrema salsugineum 408  
Thhalv10001467m V4N240 PAC:20188786 Eutrema salsugineum 411  
Ciclev10021267m V4U7Z4 PAC:20811608 Citrus clementina 312  
Ciclev10021264m V4U7Z4 PAC:20811609 Citrus clementina 312  
Ciclev10020374m V4VY09 PAC:20811606 Citrus clementina 412  
Ciclev10020749m V4TDB0 PAC:20811607 Citrus clementina 364  
Carubv10025078m R0HGM0 PAC:20901699 Capsella rubella 410  
Carubv10017348m R0HG79 PAC:20888000 Capsella rubella 412  
MDP0000270105 PAC:22650748 Malus domestica 504  
MDP0000341866 PAC:22634568 Malus domestica 408  
MDP0000341862 PAC:22650210 Malus domestica 410  
MDP0000147238 PAC:22681769 Malus domestica 402  
MDP0000188392 PAC:22626215 Malus domestica 402  
MDP0000784769 PAC:22677078 Malus domestica 159  
Lus10030389 PAC:23153086 Linum usitatissimum 407  
Lus10037849 PAC:23163893 Linum usitatissimum 406  
Potri.014G082900.1 B9I8I3 PAC:27032134 Populus trichocarpa 420  
Gorai.007G098800.1 A0A0D2SHB2 PAC:26784699 Gossypium raimondii 416  
mrna19330.1-v1.0-hybrid PAC:27247534 Fragaria vesca 414  

2 Publications

First Author Title Year Journal Volume Pages PubMed ID