InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: BEST1

Summary

InnateDB Protein

IDBP-375923.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BEST1

Protein Name

bestrophin 1

Synonyms

ARB; BEST; BMD; RP50; TU15B; VMD2;

Species

Homo sapiens

Ensembl Protein

ENSP00000399709

InnateDB Gene

IDBG-50695 (BEST1)

Protein Structure

UniProt Annotation

Function

Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate. {ECO:0000269PubMed:11904445, ECO:0000269PubMed:12907679, ECO:0000269PubMed:18400985}.

Subcellular Localization

Cell membrane {ECO:0000269PubMed:19853238}; Multi-pass membrane protein {ECO:0000269PubMed:19853238}. Basolateral cell membrane {ECO:0000269PubMed:19853238}.

Disease Associations

Vitelliform macular dystrophy 2 (VMD2) [MIM:153700]: VMD2 is an autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss. {ECO:0000269PubMed:10331951, ECO:0000269PubMed:10394929, ECO:0000269PubMed:10453731, ECO:0000269PubMed:10682987, ECO:0000269PubMed:10798642, ECO:0000269PubMed:11241846, ECO:0000269PubMed:11449320, ECO:0000269PubMed:12187431, ECO:0000269PubMed:12324875, ECO:0000269PubMed:13129869, ECO:0000269PubMed:14517959, ECO:0000269PubMed:15176385, ECO:0000269PubMed:18766995, ECO:0000269PubMed:19357557, ECO:0000269PubMed:9662395, ECO:0000269PubMed:9700209}. Note=The disease is caused by mutations affecting the gene represented in this entry.Retinitis pigmentosa 50 (RP50) [MIM:613194]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:19853238}. Note=The disease is caused by mutations affecting the gene represented in this entry.Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]: A rare autosomal dominant disorder with incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity. {ECO:0000269PubMed:10453731}. Note=The disease is caused by mutations affecting the gene represented in this entry.Bestrophinopathy, autosomal recessive (ARB) [MIM:611809]: A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies. {ECO:0000269PubMed:18179881}. Note=The disease is caused by mutations affecting the gene represented in this entry.Vitreoretinochoroidopathy, autosomal dominant (ADVIRC) [MIM:193220]: A disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma. {ECO:0000269PubMed:15452077}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.

Experimentally validated
Total	2 [view]
Protein-Protein	2 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005254	chloride channel activity

Biological Process

GO:0006821	chloride transport
GO:0007601	visual perception
GO:0030321	transepithelial chloride transport
GO:0034220	ion transmembrane transport
GO:0050908	detection of light stimulus involved in visual perception
GO:0051924	regulation of calcium ion transport
GO:0055085	transmembrane transport
GO:1902476	chloride transmembrane transport

Cellular Component

GO:0005829	cytosol
GO:0005886	plasma membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0016323	basolateral plasma membrane
GO:0034707	chloride channel complex