BEST1
Summary: This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| bestrophin 1 | MIM:607854 | Ensembl:ENSG00000167995 | HGNC:HGNC:12703 | PA162377454 | 11q12.3 |
GO terms in BEST1
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005829 | cytosol |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0016020 | membrane |
| CC | TAS | GO:0016021 | integral component of membrane |
| CC | IDA | GO:0016323 | basolateral plasma membrane |
| CC | IBA | GO:0034707 | chloride channel complex |
| CC | IDA | GO:0034707 | chloride channel complex |
| BP | IDA | GO:0006821 | chloride transport |
| BP | TAS | GO:0007601 | visual perception |
| BP | IEA | GO:0015701 | bicarbonate transport |
| BP | IDA | GO:0030321 | transepithelial chloride transport |
| BP | TAS | GO:0034220 | ion transmembrane transport |
| BP | IEA | GO:0050908 | detection of light stimulus involved in visual perception |
| BP | IEA | GO:0051924 | regulation of calcium ion transport |
| BP | IEA | GO:1902476 | chloride transmembrane transport |
| MF | TAS | GO:0005229 | intracellular calcium activated chloride channel activity |
| MF | IBA | GO:0005254 | chloride channel activity |
| MF | IDA | GO:0005254 | chloride channel activity |
| MF | IDA | GO:0005254 | chloride channel activity |
| MF | TAS | GO:0015106 | bicarbonate transmembrane transporter activity |
| MF | IPI | GO:0042802 | identical protein binding |
Gene expression in normal tissue: BEST1
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BEST1
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-2672351 | Stimuli-sensing channels |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-983712 | Ion channel transport |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BEST1
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.