InnateDB Protein
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IDBP-594505.3
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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BEST1
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Protein Name
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bestrophin 1
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Synonyms
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ARB; BEST; BMD; RP50; TU15B; VMD2;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000432681
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InnateDB Gene
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IDBG-50695 (BEST1)
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Protein Structure
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Function |
Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate. {ECO:0000269PubMed:11904445, ECO:0000269PubMed:12907679, ECO:0000269PubMed:18400985}.
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Subcellular Localization |
Cell membrane {ECO:0000269PubMed:19853238}; Multi-pass membrane protein {ECO:0000269PubMed:19853238}. Basolateral cell membrane {ECO:0000269PubMed:19853238}.
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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.
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Tissue Specificity |
Predominantly expressed in the basolateral membrane of the retinal pigment epithelium.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
2
[view]
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Protein-Protein |
2
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
Accession |
GO Term |
GO:0005254
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chloride channel activity
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR021134
Bestrophin/UPF0187
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PFAM |
PF01062
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O76090
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PhosphoSite |
PhosphoSite-O76090
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TrEMBL |
B7Z3G2
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UniProt Splice Variant |
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Entrez Gene |
7439
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UniGene |
Hs.683115
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RefSeq |
XP_005274273
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HUGO |
HGNC:12703
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OMIM |
607854
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CCDS |
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HPRD |
01094
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IMGT |
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EMBL |
AF057169
AF057170
AF073491
AF073492
AF073493
AF073494
AF073495
AF073496
AF073497
AF073498
AF073499
AF073500
AF073501
AK289681
AK293701
AK295838
AK295998
AK301392
AP003733
AY515704
BC015220
BC041664
CH471076
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GenPept |
AAC33766
AAC64343
AAC64344
AAC64926
AAH15220
AAH41664
AAR99654
BAF82370
BAH11574
BAH12198
BAH12234
BAH13472
EAW73982
EAW73985
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