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Gene: Best1 (bestrophin 1) Mus musculus
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Symbol: Best1
Name: bestrophin 1
Description: Predicted to have chloride channel activity and identical protein binding activity. Involved in detection of light stimulus involved in visual perception and regulation of calcium ion transport. Predicted to localize to the basolateral plasma membrane and chloride channel complex. Used to study bestrophinopathy and vitelliform macular dystrophy. Human ortholog(s) of this gene implicated in bestrophinopathy; macular degeneration; retinitis pigmentosa 50; and vitelliform macular dystrophy. Is expressed in choroid plexus; neocortex; and telencephalon meninges. Orthologous to human BEST1 (bestrophin 1); PARTICIPATES IN retinitis pigmentosa pathway; INTERACTS WITH 5-Nitro-2-(3-phenylpropylamino)benzoic acid; calcium atom; calcium(0).
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: best macular dystrophy; bestrophin-1; Bmd; mBest1; vitelliform macular dystrophy 2 homolog; vitelliform macular dystrophy protein 2 homolog; Vmd2
Orthologs:
Homo sapiens (human) : BEST1 (bestrophin 1)  HGNC  Alliance
Rattus norvegicus (Norway rat) : Best1 (bestrophin 1)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Best1 (bestrophin 1)
Pan paniscus (bonobo/pygmy chimpanzee) : BEST1 (bestrophin 1)
Canis lupus familiaris (dog) : BEST1 (bestrophin 1)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Best1 (bestrophin 1)
Sus scrofa (pig) : BEST1 (bestrophin 1)
Chlorocebus sabaeus (green monkey) : BEST1 (bestrophin 1)
Heterocephalus glaber (naked mole-rat) : Best1 (bestrophin 1)
more info ...
Related Pseudogenes: Best4-ps  
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm38 Ensembl199,985,174 - 10,001,633 (-)Ensembl
GRCm38199,985,172 - 10,001,633 (-)NCBIGRCm38GRCm38mm10GRCm38
MGSCv371910,059,662 - 10,076,123 (-)NCBIGRCm37mm9NCBIm37
MGSCv361910,052,219 - 10,064,259 (-)NCBImm8
Celera1910,682,499 - 10,706,936 (-)NCBICelera
Cytogenetic Map19 ANCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
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References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
QTLs in Region (GRCm38)
miRNA Target Status

Expression


Sequence

Nucleotide Sequences
Protein Sequences
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Additional Information

External Database Links
 
More on Best1
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: mm9 mm10
MGI Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1323229
Created: 2005-01-12
Species: Mus musculus
Last Modified: 2020-01-28
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.