BEST1

Description		bestrophin 1
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GO Annotations	Cellular Component	Cytosol Plasma Membrane Basal Plasma Membrane Membrane Basolateral Plasma Membrane Chloride Channel Complex Presynapse Membrane Microdomain
	Molecular Function	Intracellularly Calcium-gated Chloride Channel Activity Chloride Channel Activity Protein Binding Bicarbonate Transmembrane Transporter Activity Channel Activity Ligand-gated Channel Activity Identical Protein Binding Bicarbonate Channel Activity
	Biological Process	Monoatomic Ion Transport Chloride Transport Visual Perception Glutamate Secretion Bicarbonate Transport Transepithelial Chloride Transport Monoatomic Ion Transmembrane Transport Regulation Of Synaptic Plasticity Detection Of Light Stimulus Involved In Visual Perception Protein Complex Oligomerization Regulation Of Calcium Ion Transport Gamma-aminobutyric Acid Secretion, Neurotransmission Chloride Transmembrane Transport
Pathways		Stimuli-sensing channels
Drugs
Diseases		Vitelliform macular dystrophy, including: Best disease / Juvenile vitelliform macular dystrophy (VMD2) ; Adult-onset vitelliform macular dystrophy (AVMD) Retinitis pigmentosa (RP) Vitreoretinal degeneration, including: Stickler syndrome type I (STL1); Stickler syndrome type II (STL2); Snowflake vitreoretinal degeneration (SVD); Wagner syndrome 1 (WGN1); Knobloch syndrome (KNO); Enhanced S-cone syndrome (ESCS); Autosomal dominant vitreoretinochoroidopathy (ADVIRC)
GWAS		Aspartate aminotransferase levels ( 33547301) Estradiol levels ( 22675492) Metabolite levels ( 23823483) Plasma omega-3 polyunsaturated fatty acid level (eicosapentaenoic acid) ( 21829377) Plasma omega-3 polyunsaturated fatty acid levels (docosapentaenoic acid) ( 21829377) Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid) ( 24823311) Plasma omega-6 polyunsaturated fatty acid levels (arachidonic acid) ( 24823311) Plasma omega-6 polyunsaturated fatty acid levels (dihomo-gamma-linolenic acid) ( 24823311) Plasma omega-6 polyunsaturated fatty acid levels (gamma-linolenic acid) ( 24823311) Plasma omega-6 polyunsaturated fatty acid levels (linoleic acid) ( 24823311) Red blood cell fatty acid levels ( 25500335)
Interacting Genes		4 interacting genes: FXYD6-FXYD2 MS4A13 PPP2CA PPP2R5A
Entrez ID		7439
HPRD ID		01094
Ensembl ID		ENSG00000167995
Uniprot IDs		A0A0C4DGE9 A0A0S2Z4M4 A0A0S2Z579 B7Z375 O76090
PDB IDs		8D1I 8D1J 8D1K 8D1L 8D1M 8D1O 9CTQ 9CTR 9CTS 9CTT 9DYL 9DYM
Enriched GO Terms of Interacting Partners?		Protein Phosphatase Type 2A Complex RNA Polymerase II CTD Heptapeptide Repeat S7 Phosphatase Activity RNA Polymerase II CTD Heptapeptide Repeat S2 Phosphatase Activity Chromosome, Centromeric Region RNA Polymerase II CTD Heptapeptide Repeat S5 Phosphatase Activity Negative Regulation Of Glycolytic Process Through Fructose-6-phosphate Vascular Endothelial Cell Response To Oscillatory Fluid Shear Stress Kinase Inhibitor Activity Protein Serine/threonine Phosphatase Complex Peptidyl-threonine Dephosphorylation INTAC Complex Vascular Endothelial Cell Response To Fluid Shear Stress GABA Receptor Binding FAR/SIN/STRIPAK Complex Negative Regulation Of Glycolytic Process Response To Lead Ion Protein Phosphatase Activator Activity RNA Polymerase II Transcription Initiation Surveillance Negative Regulation Of Hippo Signaling Negative Regulation Of ATP Metabolic Process M Band Cellular Response To Fluid Shear Stress Positive Regulation Of NLRP3 Inflammasome Complex Assembly Negative Regulation Of Protein Localization To Plasma Membrane
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