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IPR021134 is a Bestrophin-like.
<p>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 [[cite:PUB00011864]]. VMD2 encodes a 585-amino acid protein with an approximate mass of 68kDa which has been designated bestrophin. Bestrophin shares homology with the Caenorhabditis elegans RFP 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 calcium-activated chloride channels (CaCC) [[cite:PUB00096752]], indicating a direct role for bestrophin in generating the light peak [[cite:PUB00011864], [cite:PUB00096747], [cite:PUB00096748]]. Bestrophins are also permeable to other monovalent anions including bicarbonate, bromine, iodine, thiocyanate an nitrate [[cite:PUB00096752], [cite:PUB00096748]]. Structural analysis revealed that N-terminal region of the proteins is highly conserved and sufficient for its CaCC activity. The C-terminal region has low sequence identity. 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 domain altering the electrophysiological properties of the channel [[cite:PUB00096752], [cite:PUB00011865]].</p> <p>This entry also includes bestrophin homologues from bacteria and plants, formerly known as UPF0187 family members, including Voltage-dependent anion channel-forming protein YneE from E.coli and VCCN1/2 from Arabidopsis [[cite:PUB00103560], [cite:PUB00103559]].</p>
This description is obtained from EB-eye REST.
| Transcript | Name | Description | Predicted domains | Domain count |
|---|---|---|---|---|
| – | PREDICTED: UPF0187 protein At3g61320, chloroplastic-like [Cicer arietinum] gi|502157214|ref|XP_004510796.1| | 10 | ||
| – | Bestrophin/UPF0187; TAIR: AT3G61320.1 Bestrophin-like protein; Swiss-Prot: sp|Q9M2D2|YU88_ARATH UPF0187 protein At3g61320, chloroplastic; TrEMBL-Plants: tr|K7KC35|K7KC35_SOYBN Uncharacterized protein; Found in the gene: LotjaGi3g1v0382500 | 10 |
A list of co-occurring predicted domains within the L. japonicus gene space:
| Predicted domain | Source | Observations | Saturation (%) |
|---|---|---|---|
| mobidb-lite | MobiDBLite | 1 | 50.00 |