Version 5.4
Mus musculus Gene: Best1
Summary
InnateDB Gene IDBG-142897.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Best1
Gene Name bestrophin 1
Synonyms Bmd; mBest1; Vmd2
Species Mus musculus
Ensembl Gene ENSMUSG00000037418
Encoded Proteins
IDBP-401503
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 19:9985174-10001633
Strand Reverse strand
Band A
Transcripts
ENSMUST00000117346 ENSMUSP00000113053
ENSMUST00000144273
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.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005254 chloride channel activity
Biological Process
GO:0006821 chloride transport
GO:0030321 transepithelial chloride transport
GO:0050908 detection of light stimulus involved in visual perception
GO:0051924 regulation of calcium ion transport
GO:1902476 chloride transmembrane transport
Cellular Component
GO:0016323 basolateral plasma membrane
GO:0034707 chloride channel complex
Orthologs
Species
Homo sapiens
Bos taurus
Gene ID
Gene Order
ENSG00000167995
View Gene Order
ENSBTAG00000011186
Not yet available
Pathways
NETPATH
REACTOME
REACT_196640
Stimuli-sensing channels pathway
REACT_268398
Orphan transporters pathway
REACT_262350
Ion channel transport pathway
REACT_253400
Transmembrane transport of small molecules pathway
KEGG
INOH
PID NCI
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
REACT_160189
Stimuli-sensing channels pathway
REACT_15518
Transmembrane transport of small molecules pathway
REACT_267716
Orphan transporters pathway
REACT_25300
Ion channel transport pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.31577
RefSeq NM_011913
OMIM
CCDS CCDS29568
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca