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HomoloGene:37895. Gene conserved in Euteleostomi Download , Links
Genes
Genes identified as putative homologs of one another during the construction of HomoloGene.

Proteins
Proteins used in sequence comparisons and their conserved domain architectures.

   BEST1,  H.sapiens
bestrophin 1
    NP_004174.1
585 aa
   BEST1,  P.troglodytes
bestrophin 1
    XP_001151529.1
585 aa
   LOC718993,  M.mulatta
bestrophin-1-like
    XP_001116591.1
585 aa
   BEST1,  C.lupus
bestrophin 1
    NP_001091014.1
580 aa
   BEST1,  B.taurus
bestrophin 1
    NP_001073714.1
589 aa
   Best1,  M.musculus
bestrophin 1
    NP_036043.2
551 aa
   Best1,  R.norvegicus
bestrophin 1
    NP_001011940.1
550 aa
   BEST1,  G.gallus
bestrophin 1
    XP_004941545.1
819 aa
   best1,  X.tropicalis
bestrophin 1
    NP_001155223.1
670 aa
   LOC560608,  D.rerio
bestrophin-1-like
    XP_689098.3
672 aa


Protein Alignments
Protein multiple alignment, pairwise similarity scores and evolutionary distances.

Show Multiple Alignment

Show Pairwise Alignment Scores

Pairwise alignments generated using BLAST
Regenerate Alignments




Phenotypes
Phenotypic information for the genes in this entry imported from model organism databases.

H.sapiens
Macular dystrophy, vitelliform type.
Maculopathy, bull's-eye.
Vitelliform macular dystrophy, adult-onset.



Publications
Articles associated with genes and sequences of this homology group.

A novel homozygous BEST1 mutation correlates with complex ocular phenotypes.
Sheng X, et al. Ophthalmology 120, 1511-2.e2 (2013).
Novel mutation in BEST1 associated with retinoschisis.
Silva RA, et al. JAMA Ophthalmol 131, 794-8 (2013).
Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy.
Cascavilla ML, et al. Ophthalmic Res 48, 146-50 (2012).



Conserved Domains
Conserved Domains from CDD found in protein sequences by rpsblast searching.
Bestrophin (pfam01062)
  Bestrophin, RFP-TM, chloride channel.
Bestrophin (cl01544)
  Bestrophin, RFP-TM, chloride channel.



Related Homology Resources
Links to curated and computed homology information found in other databases.
Orthology group for M.musculus Best1 includes H.sapiens BEST1 and R.norvegicus Best1.



UniGene
Links to UniGene entries found by comparing the homologous proteins against the transcript database.

Chordata
Mammalia - mammals (11 transcripts, 10 species)
Actinopterygii - bony fishes (1 transcript, 1 species)
Amphibia - amphibians (1 transcript, 1 species)

 

 

 

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