BEST1 — Bestrophin 1
BEST1 belongs to a gene co-expression module in 4 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
BEST1's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| Gamma-delta T cells | ER Protein Translocation Protein processing & ER | ATG2A, CLSTN1, CTDSP2, GALC, GSE1, HAPSTR1, HOOK2, KMT2E +12 more | |
| Monocytes | Non-canonical NF-κB Innate immunity | AMPD2, BCL3, DENND5A, FAM20A, NFKB2, NOCT, RELB, TICAM1 | View in SCUBA |
| Mucosal-associated invariant T cell | Autophagy & Trafficking Stress | ATG2A, B3GNT2, CEBPZ, CTPS1, ELOA, KANSL2, LITAF, MTFP1 +6 more | |
| Neutrophils | KLF2 Survival Response Stress | FOSB, IDS, JMJD1C, KLF2, KLF6, MYADM, RASSF5, YPEL5 +1 more |
About the gene
| Synonyms | BEST, BMD, RP50, VMD2 |
|---|---|
| Chromosome | 11: 61950063-61965515 |
| Predicted location | Intracellular, Membrane |
| Essential gene | No |
| Protein class | Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters |
| Molecular function | Chloride channel, Ion channel |
| Biological process | Ion transport, Sensory transduction, Transport, Vision |
Function
Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by calcium (Ca2+). Allows the movement of chloride and hydrogencarbonate. Found in a partially open conformation leading to significantly smaller chloride movement. Upon F2R/PAR-1 activation, the sequestered calcium is released into the cytosol of astrocytes, leading to the (Ca2+)-dependent release of L- glutamate into the synaptic cleft that targets the neuronal postsynaptic GRIN2A/NMDAR receptor resulting in the synaptic plasticity regulation (By similarity). Upon activation of the norepinephrine- alpha-1 adrenergic receptor signaling pathway, transports as well D- serine than L-glutamate in a (Ca2+)-dependent manner, leading to activation of adjacent NMDAR receptors and therefore regulates the heterosynaptic long-term depression and metaplasticity during initial memory acquisition (By similarity). Releases the 4-aminobutanoate neurotransmitter in a (Ca2+)-dependent manner, and participates in its tonic release from cerebellar glial cells (By similarity).
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.