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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; chr11:61949884-61964463 (+)  GRCh38
Disease Associations  (5) Diseases Associated with Human BEST1
Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null mutation exhibit altered eye electrophysiology.
 
Human Diseases Modeled Using Mouse Best1 (2)    Alleles Annotated to Human Diseases(1)   
Interactions
Best1 interacts with 44 markers (Mir125a, Mir130b, Mir135a-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process chloride transmembrane transport, chloride transport, ...
Component basolateral plasma membrane, chloride channel complex, ...
Function chloride channel activity
External Resources: FuncBase
Expression
Literature Summary: (1 records)
cDNA source data(7)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(7) cDNA(7)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000028256 (Evidence)
Ensembl Gene ModelENSMUSG00000037418 (Evidence)
Entrez Gene24115 (Evidence)
UniGene31577
DFCITC1586149, TC1692862
DoTSDT.94135241
NIA Mouse Gene IndexU038794
Consensus CDS ProjectCCDS29568.1
International Mouse Knockout Project StatusBest1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000028256 VEGA Gene Model | MGI Sequence Detail 16460 C57BL/6J ±  kb
transcript OTTMUST00000070017 VEGA | MGI Sequence Detail 2080 Not Applicable 
polypeptide OTTMUSP00000035635 VEGA | MGI Sequence Detail 551 Not Applicable 

For the selected sequences
All sequences(26) RefSeq(2) UniProt(1)
Polymorphisms SNPs within 2kb(168 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
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:202260 Johnson AA, et al., Differential effects of Best disease causing missense mutations on bestrophin-1 trafficking. Hum Mol Genet. 2013 Dec 1;22(23):4688-97
All references(43)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory