Gene name
Best1 (VMD2)
Experiment(s)
For this entry:
BEST1_HUMAN (Best1)
| Species | Homo sapiens |
|---|---|
| Localization | Basolateral plasma membrane |
| Reference |
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 (2009) Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa., Am J Hum Genet, 85, 581-92. [PubMed] [DOI] |
| Evidence level | Antibody staining |
| Organ | Kidney |
| Cell | MDCK cells (distal tubule) |
| Notes |
For ortholog entries:
Alignment and sequence features
Wheel: zoom in/out; drag: scroll left/right. Sequences and features are drawn in three lines. Bottom line: topology (red bar: cytoplasmic region; yellow bar: transmembrane region; transmembrane re-entrant loop; blue bar: extracellular region; black bar: signal peptide). Middle line: amino acid sequence (grey bar or one letter code). Top line: post translational modifications (Y: N-glycosylation site; Y: O-glycosylation site;P: phosphorylation site), intrinsically disordered regions (light green bar: IDR) and short linear motifs (light steel blue bar: ELM region).
CCTOP topology prediction
| Start | End | Localisation |
|---|---|---|
| 1 | 32 | Cytoplasmic |
| 33 | 54 | Membrane |
| 55 | 60 | Extracellular |
| 61 | 81 | Membrane |
| 82 | 239 | Cytoplasmic |
| 240 | 258 | Membrane |
| 259 | 264 | Extracellular |
| 265 | 286 | Membrane |
| 287 | 585 | Cytoplasmic |
Phosphorylation
Family and domain data
| Database | Domain/Family name |
|---|---|
| InterPro | Best1 |
| InterPro | Bestrophin |
| InterPro | Bestrophin/UPF0187 |
| Pfam | Bestrophin |
Interactions
| With (links to EBI) | #Exp | PubMed links |
|---|---|---|
| BEST1_HUMAN | 2 | 19372599 |
Protein can be found in apical membrane,
Protein can be found in basal membrane,
Protein can be found both membranes,
Localisation is unknown.