Best1
Gene Detail

Symbol Name ID

Best1 bestrophin 1 MGI:1346332

Synonyms

best macular dystrophy, mBest1, Vmd2

Feature Type

protein coding gene

Genetic Map

Chromosome 19

6.24 cM, cytoband B
Detailed Genetic Map ± 1 cM


Mapping data(2)

Sequence Map

Chr19:9985174-10001633 bp, - strand From VEGA annotation of GRCm38   16460 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:37895  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Best1

Human homologs

Human Homolog		BEST1, bestrophin 1
NCBI Gene ID		7439
neXtProt AC		NX_O76090
Human Synonyms		ARB, BEST, BMD, RP50, TU15B, VMD2
Human Chr (Location)		11q13; chr11:61717356-61731935 (+)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human BEST1

Alleles and phenotypes

All alleles(3) : Targeted(3)
 

Mice homozygous for a null mutation exhibit altered eye electrophysiology.

 
Human Diseases Modeled Using Mouse Best1 (2)    Alleles Annotated to Human Diseases(1)   

Gene Ontology (GO) classifications

All GO classifications: (13 annotations)

Process	chloride transport, detection of light stimulus involved in visual perception, ...
Component	basolateral plasma membrane, chloride channel complex, ...
Function	chloride channel activity, ion channel activity

External Resources: FuncBase

Expression

cDNA source data(7)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(7) cDNA(7)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000028256 (Evidence)
Ensembl Gene Model	ENSMUSG00000037418 (Evidence)
Entrez Gene	24115 (Evidence)
UniGene	31577
DFCI	TC1586149, TC1692862
DoTS	DT.94135241
NIA Mouse Gene Index	U038794
Consensus CDS Project	CCDS29568.1
International Mouse Knockout Project Status	Best1

Sequences

Length	Strain/Species
genomic	OTTMUSG00000028256	VEGA Gene Model | MGI Sequence Detail	16460	C57BL/6J
transcript	OTTMUST00000070017	VEGA | MGI Sequence Detail	2080	Not Applicable
polypeptide	OTTMUSP00000035635	VEGA | MGI Sequence Detail	551	Not Applicable

All sequences(26) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(101 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000615	Bestrophin
InterPro	IPR021134	Bestrophin/UPF0187
Protein Ontology	PR:000004721	bestrophin-1

References

(Earliest) J:57560 Petrukhin K, et al., Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998 Jul;19(3):241-7
(Latest) J:188266 Woo DH, et al., TREK-1 and Best1 Channels Mediate Fast and Slow Glutamate Release in Astrocytes upon GPCR Activation. Cell. 2012 Sep 28;151(1):25-40
All references(41)