Version 5.4
| Bos taurus Gene: BEST1 | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Summary | |||||||||
| InnateDB Gene | IDBG-643545.2 | ||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||
| Gene Symbol | BEST1 | ||||||||
| Gene Name | bestrophin-1 | ||||||||
| Synonyms | |||||||||
| Species | Bos taurus | ||||||||
| Ensembl Gene | ENSBTAG00000011186 | ||||||||
| Encoded Proteins |
bestrophin-1
|
||||||||
| Protein Structure | |||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||
| Entrez Gene | |||||||||
| Summary |
This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000167995:
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] |
||||||||
| Gene Information | |||||||||
| Type | Protein coding | ||||||||
| Genomic Location | Chromosome 29:41162552-41172395 | ||||||||
| Strand | Forward strand | ||||||||
| Band | |||||||||
| Transcripts |
|
||||||||
| Interactions | |||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
|
||||||||
| Gene Ontology | |||||||||
Molecular Function |
|
||||||||
| Biological Process |
|
||||||||
| Cellular Component |
|
||||||||
| Orthologs | |||||||||
|
Species
Homo sapiens
Mus musculus
|
Gene ID
Gene Order
|
||||||||
| Pathway Predictions based on Human Orthology Data | |||||||||
| NETPATH | |||||||||
| REACTOME |
Stimuli-sensing channels pathway
Transmembrane transport of small molecules pathway
Orphan transporters pathway
Ion channel transport pathway
Stimuli-sensing channels pathway
Orphan transporters pathway
Ion channel transport pathway
Transmembrane transport of small molecules pathway
|
||||||||
| KEGG | |||||||||
| INOH | |||||||||
| PID NCI | |||||||||
| Cross-References | |||||||||
| SwissProt | |||||||||
| TrEMBL | A1A4I7 | ||||||||
| UniProt Splice Variant | |||||||||
| Entrez Gene | 508924 | ||||||||
| UniGene | Bt.27469 | ||||||||
| RefSeq | NM_001080245 XM_005226898 XM_005226899 XM_005226901 XM_005226902 | ||||||||
| HUGO | |||||||||
| OMIM | |||||||||
| CCDS | |||||||||
| HPRD | |||||||||
| IMGT | |||||||||
| EMBL | BC126544 DAAA02063477 | ||||||||
| GenPept | AAI26545 | ||||||||
| RNA Seq Atlas | 508924 | ||||||||