Bestrophin 1

BEST1
Identifiers
Aliases	BEST1, ARB, BEST, BMD, RP50, TU15B, VMD2, Bestrophin 1, Best1V1Delta2
External IDs	OMIM: 607854; MGI: 1346332; HomoloGene: 37895; GeneCards: BEST1; OMA:BEST1 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	61,965,515 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	9,978,997 bp
RNA expression pattern
	Top expressed in
	retinal pigment epithelium; ; external globus pallidus; ; inferior olivary nucleus; ; C1 segment; ; pars reticulata; ; monocyte; ; tibial nerve; ; pars compacta; ; internal globus pallidus; ; putamen;
	Top expressed in
	seminiferous tubule; ; spermatid; ; otolith organ; ; utricle; ; spermatocyte; ; ankle; ; vestibular membrane of cochlear duct; ; proximal tubule; ; granulocyte; ; embryo;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	chloride channel activity; intracellular calcium activated chloride channel activity; bicarbonate transmembrane transporter activity; identical protein binding;
Cellular component	integral component of membrane; cytosol; plasma membrane; basolateral plasma membrane; membrane; chloride channel complex;
Biological process	ion transmembrane transport; chloride transport; regulation of calcium ion transport; chloride transmembrane transport; transepithelial chloride transport; ion transport; visual perception; detection of light stimulus involved in visual perception; response to stimulus; bicarbonate transport;
	Sources:Amigo / QuickGO
Orthologs
	7439
	24115
	ENSG00000167995
	ENSMUSG00000037418
	O76090
	O88870
NM_001139443; NM_001300786; NM_001300787; NM_004183; NM_001363591;
	NM_001363592; NM_001363593
	NM_011913
NP_001132915; NP_001287715; NP_001287716; NP_004174; NP_001350520;
	NP_001350521; NP_001350522
	NP_036043
	Wikidata
View/Edit Human	View/Edit Mouse

Bestrophin-1 (Best1) is a protein that, in humans, is encoded by the BEST1 gene (RPD ID - 5T5N/4RDQ).

The bestrophin family of proteins comprises four evolutionary related genes (BEST1, BEST2, BEST3, and BEST4) that code for integral membrane proteins. This family was first identified in humans by linking a BEST1 mutation with Best vitelliform macular dystrophy (BVMD). Mutations in the BEST1 gene have been identified as the primary cause for at least five different degenerative retinal diseases.

The bestrophins are an ancient family of structurally conserved proteins that have been identified in nearly every organism studied from bacteria to humans. In humans, they function as calcium-activated anion channels, each of which has a unique tissue distribution throughout the body. Specifically, the BEST1 gene on chromosome 11q13 encodes the Bestrophin-1 protein in humans whose expression is highest in the retina.