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).^[5]

The bestrophin family of proteins comprises four evolutionary related genes (BEST1, BEST2, BEST3, and BEST4) that code for integral membrane proteins.^[6] This family was first identified in humans by linking a BEST1 mutation with Best vitelliform macular dystrophy (BVMD).^[7] Mutations in the BEST1 gene have been identified as the primary cause for at least five different degenerative retinal diseases.^[7]

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.^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000167995 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000037418 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Entrez Gene: BEST1 bestrophin 1".
^ Kunzelmann K (September 2015). "TMEM16, LRRC8A, bestrophin: chloride channels controlled by Ca(2+) and cell volume". review. Trends in Biochemical Sciences. 40 (9): 535–43. doi:10.1016/j.tibs.2015.07.005. PMID 26254230.
^ ^a ^b ^c Johnson AA, Guziewicz KE, Lee CJ, Kalathur RC, Pulido JS, Marmorstein LY, Marmorstein AD (January 2017). "Bestrophin 1 and retinal disease". review. Progress in Retinal and Eye Research. 58: 45–69. doi:10.1016/j.preteyeres.2017.01.006. PMC 5600499. PMID 28153808.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000167995 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000037418 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: BEST1 bestrophin 1".

[Kunzelmann_2015-6] Kunzelmann K (September 2015). "TMEM16, LRRC8A, bestrophin: chloride channels controlled by Ca(2+) and cell volume". review. Trends in Biochemical Sciences. 40 (9): 535–43. doi:10.1016/j.tibs.2015.07.005. PMID 26254230.

[Johnson_2017-7] Johnson AA, Guziewicz KE, Lee CJ, Kalathur RC, Pulido JS, Marmorstein LY, Marmorstein AD (January 2017). "Bestrophin 1 and retinal disease". review. Progress in Retinal and Eye Research. 58: 45–69. doi:10.1016/j.preteyeres.2017.01.006. PMC 5600499. PMID 28153808.

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