Version 5.4
| Homo sapiens Gene: BEST1 | |||||||||||||||||||
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| Summary | |||||||||||||||||||
| InnateDB Gene | IDBG-50695.6 | ||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||
| Gene Symbol | BEST1 | ||||||||||||||||||
| Gene Name | bestrophin 1 | ||||||||||||||||||
| Synonyms | ARB; BEST; BMD; RP50; TU15B; VMD2 | ||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||
| Ensembl Gene | ENSG00000167995 | ||||||||||||||||||
| Encoded Proteins |
bestrophin 1
bestrophin 1
bestrophin 1
bestrophin 1
bestrophin 1
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| Protein Structure |
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| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||
| Entrez Gene | |||||||||||||||||||
| Summary |
This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 11:61949821-61965515 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | q12.3 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||
| NETPATH | |||||||||||||||||||
| REACTOME |
Stimuli-sensing channels pathway
Transmembrane transport of small molecules pathway
Orphan transporters pathway
Ion channel transport pathway
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| KEGG | |||||||||||||||||||
| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | O76090 | ||||||||||||||||||
| TrEMBL | B7Z1N8 B7Z3G2 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 7439 | ||||||||||||||||||
| UniGene | Hs.683115 | ||||||||||||||||||
| RefSeq | XM_005274216 NM_001139443 NM_004183 XM_005274210 | ||||||||||||||||||
| HUGO | HGNC:12703 | ||||||||||||||||||
| OMIM | 607854 | ||||||||||||||||||
| CCDS | CCDS31580 CCDS44623 | ||||||||||||||||||
| HPRD | 01094 | ||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AF057169 AF057170 AF073491 AF073492 AF073493 AF073494 AF073495 AF073496 AF073497 AF073498 AF073499 AF073500 AF073501 AK289681 AK293701 AK295838 AK295998 AK301392 AP003733 AY515704 BC015220 BC041664 CH471076 | ||||||||||||||||||
| GenPept | AAC33766 AAC64343 AAC64344 AAC64926 AAH15220 AAH41664 AAR99654 BAF82370 BAH11574 BAH12198 BAH12234 BAH13472 EAW73982 EAW73985 | ||||||||||||||||||
| RNA Seq Atlas | 7439 | ||||||||||||||||||