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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
bestrophin 1MIM:607854Ensembl:ENSG00000167995HGNC:HGNC:12703PA16237745411q12.3

Gene Categories:

TRANSPORTERION CHANNEL

GO terms in BEST1


Term TypeEvidence TypeGO Term IDGO Des.
CCTASGO:0005829cytosol
CCTASGO:0005886plasma membrane
CCTASGO:0016020membrane
CCTASGO:0016021integral component of membrane
CCIDAGO:0016323basolateral plasma membrane
CCIBAGO:0034707chloride channel complex
CCIDAGO:0034707chloride channel complex
BPIDAGO:0006821chloride transport
BPTASGO:0007601visual perception
BPIEAGO:0015701bicarbonate transport
BPIDAGO:0030321transepithelial chloride transport
BPTASGO:0034220ion transmembrane transport
BPIEAGO:0050908detection of light stimulus involved in visual perception
BPIEAGO:0051924regulation of calcium ion transport
BPIEAGO:1902476chloride transmembrane transport
MFTASGO:0005229intracellular calcium activated chloride channel activity
MFIBAGO:0005254chloride channel activity
MFIDAGO:0005254chloride channel activity
MFIDAGO:0005254chloride channel activity
MFTASGO:0015106bicarbonate transmembrane transporter activity
MFIPIGO:0042802identical protein binding

Gene expression in normal tissue: BEST1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in BEST1


DatabasePathway IDPathway Des.
reactomeR-HSA-2672351Stimuli-sensing channels
reactomeR-HSA-382551Transport of small molecules
reactomeR-HSA-983712Ion channel transport

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD30917AAG1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in BEST1

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