| Gene Information | |
|---|---|
| Gene Name | BEST1 |
| Organism | Homo sapiens (Human) |
| Gene Length | 585 |
| Protein Names | Bestrophin-1 (TU15B) (Vitelliform macular dystrophy protein 2) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 680 ( ENSG00000167995 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | O76090 |
| Gene Card | BEST1 |
| Uniprot ID | O76090 |
| Pfam | PF01062 |
| In ASD | no |
| Allosteric Prediction | no (-0.267972433) |
| Ortholog in Animals | Alpaca_ BEST1 ( ortholog_one2one ) Dog_ BEST1 ( ortholog_one2one ) GuineaPig_ BEST1 ( ortholog_one2one ) Macaque_ BEST1 ( ortholog_one2one ) Mouse_ Best1 ( ortholog_one2one ) Pig_ BEST1 ( ortholog_one2one ) Rat_ Best1 ( ortholog_one2one ) Rabbit_ BEST1 ( ortholog_one2one ) |
| Ohnologs | BEST3 |
| Paralogs | BEST3, BEST4, BEST2 |
| Tissue | NA |
| Tissue Specificity | Predominantly expressed in the basolateral membrane of the retinal pigment epithelium. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 8D1I (EM 1.82A ) 8D1J (EM 2.05A ) 8D1K (EM 2.28A ) 8D1L (EM 2.12A ) 8D1M (EM 3.11A ) 8D1O (EM 2.44A ) |
| DBSNP | rs28940275 rs281865204 rs281865205 rs28940276 rs281865206 rs281865207 rs281865208 rs281865209 rs281865210 rs281865211 rs281865212 rs281865213 rs281865215 rs281865214 rs281865216 rs281865217 rs281865218 rs121918288 rs28940278 rs281865529 rs1591280714 rs281865221 rs281865530 rs28940274 rs121918289 rs281865223 rs281865224 rs281865225 rs281865224 rs28940273 rs281865226 rs281865227 rs281865228 rs281865229 rs281865230 rs281865232 rs281865231 rs281865273 rs1445469923 rs1805142 rs281865233 rs281865234 rs281865235 rs267606678 rs121918284 rs1800995 rs1417478879 rs200277476 rs199529046 rs765998048 rs267606680 rs74653691 rs281865237 rs281865275 rs281865238 rs281865239 rs281865238 rs281865240 rs281865241 rs281865242 rs281865243 rs267606677 rs28941469 rs267606676 rs281865244 rs281865245 rs281865245 rs121918291 rs281865246 rs121918290 rs281865247 rs137853905 rs28940570 rs281865276 rs281865248 rs281865250 rs281865251 rs281865253 rs281865254 rs281865255 rs1805143 rs1805143 rs281865257 rs28941468 rs1805144 rs281865258 rs281865261 rs281865259 rs281865263 rs281865262 rs281865263 rs281865264 rs281865265 rs281865267 rs281865266 rs281865268 rs281865269 rs281865270 rs281865271 rs281865277 rs121918287 rs368387447 rs17854138 rs200582915 rs147192139 rs281865283 rs148060787 rs1800010 |
| Subcellular location [CC] | Cell membrane {ECO:0000269|PubMed:19853238, ECO:0000269|PubMed:26200502}; Multi-pass membrane protein {ECO:0000269|PubMed:19853238}. Basolateral cell membrane {ECO:0000269|PubMed:19853238, ECO:0000269|PubMed:26200502}. |
| Mouse PG classification | HPG |
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