Gene

best1

ID
ZDB-GENE-110411-214
Name
bestrophin 1
Symbol
best1 Nomenclature History
Previous Names
  • si:ch1073-296i8.4
Type
protein_coding_gene
Location
Chr: 25 Mapping Details/Browsers
Description
Predicted to have chloride channel activity. Predicted to be involved in chloride transmembrane transport. Predicted to localize to chloride channel complex and plasma membrane. Human ortholog(s) of this gene implicated in autosomal dominant vitreoretinochoroidopathy; bestrophinopathy; macular degeneration; retinitis pigmentosa 50; and vitelliform macular dystrophy. Orthologous to human BEST1 (bestrophin 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Jiang et al., 2016
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With best1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal dominant vitreoretinochoroidopathy Alliance Vitreoretinochoroidopathy 193220
autosomal dominant vitreoretinochoroidopathy Alliance ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 193220
bestrophinopathy Alliance Bestrophinopathy, autosomal recessive 611809
retinitis pigmentosa 50 Alliance Retinitis pigmentosa, concentric 613194
retinitis pigmentosa 50 Alliance Retinitis pigmentosa-50 613194
vitelliform macular dystrophy Alliance Macular dystrophy, vitelliform, 2 153700
Associated With best1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR000615 Bestrophin
Family IPR021134 Bestrophin-like
Domain Details Per Protein
Protein Length Bestrophin Bestrophin-like
UniProtKB:A0A2R8Q9T0 672
UniProtKB:A0A8M3ANU8 454
Transcripts
Genome Browsers
Type Name Annotation Method Length (nt) Analysis
mRNA best1-201 (1) Havana 982 nt
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations