O88870
SS
Gene name |
Best1 (Bmd1, Vmd2) |
Protein name |
Bestrophin-1 |
Names |
Vitelliform macular dystrophy protein 2 homolog |
Species |
Mus musculus (Mouse) |
KEGG Pathway |
mmu:24115 |
EC number |
|
Protein Class |
|
Descriptions
Best3, a member of the bestrophin Cl- channel family, is a candidate of cGMP-sensitive, Ca2+-activated Cl- channel in vascular smooth muscle cells. Best3 has an autoinhibitory domain (356-362) and deletion of the domain robustly activates Best3 channel. <br>Best3 also has a C-terminal membrane association domain (368-383) and basic residue domain (384-397). The basic residue domain (384–397) is also partially involved in the membrane association. Dissociation of Best3 from membrane activates Best3.
Autoinhibitory domains (AIDs)
Target domain |
1-416 (Bestrophin) |
Relief mechanism |
Ligand binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for O88870
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O88870-F1 | Predicted | AlphaFoldDB |
19 variants for O88870
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| rs3389521386 | 76 | I>V | No | EVA | |
| rs3389517698 | 206 | L>M | No | EVA | |
| rs3389517739 | 249 | L>H | No | EVA | |
| rs3389517696 | 255 | R>K | No | EVA | |
| rs3389540869 | 335 | D>N | No | EVA | |
| rs3389540871 | 338 | W>* | No | EVA | |
| rs3408251949 | 362 | S>A | No | EVA | |
| rs3389529310 | 374 | E>D | No | EVA | |
| rs3389537161 | 401 | Q>H | No | EVA | |
| rs3389537156 | 403 | K>Q | No | EVA | |
| rs256066581 | 423 | L>F | No | EVA | |
| rs3389491980 | 436 | Q>E | No | EVA | |
| rs214628287 | 448 | L>F | No | EVA | |
| rs227440465 | 480 | D>V | No | EVA | |
| rs3408849026 | 489 | Y>F | No | EVA | |
| rs228539793 | 509 | S>N | No | EVA | |
| rs262857802 | 516 | Q>R | No | EVA | |
| rs239215533 | 522 | M>L | No | EVA | |
| rs228260431 | 544 | G>D | No | EVA |
No associated diseases with O88870
No regional properties for O88870
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for O88870 | |||
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| chloride channel complex | An ion channel complex through which chloride ions pass. |
| membrane microdomain | A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynapse | The part of a synapse that is part of the presynaptic cell. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| chloride channel activity | Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| identical protein binding | Binding to an identical protein or proteins. |
| intracellular calcium activated chloride channel activity | Enables the transmembrane transfer of chloride by a channel that opens in response to stimulus by a calcium ion or ions. Transport by a channel involves catalysis of facilitated diffusion of a solute (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel, without evidence for a carrier-mediated mechanism. |
| ligand-gated channel activity | Enables the transmembrane transfer of a solute by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| chloride transport | The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| detection of light stimulus involved in visual perception | The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal. |
| gamma-aminobutyric acid secretion, neurotransmission | The regulated release of gamma-aminobutyric acid by a cell, in which the gamma-aminobutyric acid acts as a neurotransmitter. |
| glutamate secretion | The controlled release of glutamate by a cell. The glutamate is the most abundant excitatory neurotransmitter in the nervous system. |
| protein complex oligomerization | The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers; protein oligomers may be composed of different or identical monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer. |
| regulation of calcium ion transport | Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| regulation of synaptic plasticity | A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers. |
| transepithelial chloride transport | The directed movement of chloride ions from one side of an epithelium to the other. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8N1M1 | BEST3 | Bestrophin-3 | Homo sapiens (Human) | SS |
| Q8NFU0 | BEST4 | Bestrophin-4 | Homo sapiens (Human) | SS |
| Q8NFU1 | BEST2 | Bestrophin-2a | Homo sapiens (Human) | SS |
| O76090 | BEST1 | Bestrophin-1 | Homo sapiens (Human) | SS |
| Q6H1V1 | Best3 | Bestrophin-3 | Mus musculus (Mouse) | EV |
| Q8BGM5 | Best2 | Bestrophin-2 | Mus musculus (Mouse) | SS |
| O18303 | best-25 | Bestrophin homolog 25 | Caenorhabditis elegans | PR |
| O45435 | best-13 | Bestrophin homolog 13 | Caenorhabditis elegans | PR |
| P34319 | best-5 | Bestrophin homolog 5 | Caenorhabditis elegans | PR |
| P34672 | best-24 | Bestrophin homolog 24 | Caenorhabditis elegans | PR |
| Q19978 | best-14 | Bestrophin homolog 14 | Caenorhabditis elegans | PR |
| Q23369 | best-22 | Bestrophin homolog 22 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTITYTNKVA | NARLGSFSSL | LLCWRGSIYK | LLYGEFLVFI | FLYYSIRGLY | RMVLSSDQQL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LFEKLALYCD | SYIQLIPISF | VLGFYVTLVV | SRWWSQYENL | PWPDRLMIQV | SSFVEGKDEE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| GRLLRRTLIR | YAILGQVLIL | RSISTSVYKR | FPTLHHLVLA | GFMTHGEHKQ | LQKLGLPHNT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FWVPWVWFAN | LSMKAYLGGR | IRDTVLLQSL | MNEVCTLRTQ | CGQLYAYDWI | SIPLVYTQVV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TVAVYSFFLA | CLIGRQFLNP | NKDYPGHEMD | LVVPVFTILQ | FLFYMGWLKV | AEQLINPFGE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DDDDFETNWI | IDRNLQVSLL | SVDGMHQNLP | PMERDMYWNE | AAPQPPYTAA | SARSRRHSFM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GSTFNISLKK | EDLELWSKEE | ADTDKKESGY | SSTIGCFLGL | QPKNYHLPLK | DLKTKLLCSK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NPLLEGQCKD | ANQKNQKDVW | KFKGLDFLKC | VPRFKRRGSH | CGPQAPSSHP | TEQSAPSSSD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TGDGPSTDYQ | EICHMKKKTV | EFNLNIPESP | TEHLQQRRLD | QMSTNIQALM | KEHAESYPYR |
| 550 | |||||
| DEAGTKPVLY | E |