BEST1

GENE INFORMATION

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Gene name

BEST1 (HGNC Symbol)

Synonyms

BEST, BMD, RP50, VMD2

Description

bestrophin 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]

Chromosome

11 (Chromosome progress)

Cytoband

q12.3

Chromosome location (bp)

61717293 - 61732987

Ensembl

ENSG00000167995 (version 73.37)

Entrez gene

7439

UniProt

O76090 (UniProt - Evidence at protein level)

neXtProt

NX_O76090

Antibodypedia

BEST1 antibodies
 

PROTEIN VIEW

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BEST1-001
 
BEST1-002
 
BEST1-003
 
BEST1-004
 
BEST1-006
 
BEST1-201
 
BEST1-202
 
BEST1-203
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BEST1-001 ENSP00000367282
ENST00000378043
O76090
Show all »
Show » Show » 585 67.7 No 4
BEST1-002 ENSP00000399709
ENST00000449131
O76090
Show all »
Show » Show » 604 69.1 No 3
BEST1-003 ENSP00000432681
ENST00000524926
O76090
Show all »
Show » Show » 435 50.4 No 4
BEST1-004 ENSP00000431189
ENST00000534553
E9PMB5
Show all »
55 6.1 No 0
BEST1-006 ENSP00000433195
ENST00000526988
B7Z1N8
Show all »
Show » 329 37.6 No 2
BEST1-201 ENSP00000301774
ENST00000301774
G8JLA7
Show all »
Show » Show » 292 32.7 No 0
BEST1-202 ENSP00000367281
ENST00000378042
O76090
Show all »
Show » Show » 498 57.3 No 3
BEST1-203 ENSP00000408390
ENST00000435278
B7Z375
Show all »
Show » 270 31.5 No 2