Fields »

GENE AND PROTEIN SUMMARY

? »

Gene name

BEST1

Description

bestrophin 1

Protein class

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Transporters

Protein evidence

Medium

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

8 in total
6 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

? »

Pending subcellular analysis

NORMAL TISSUE & ORGAN SUMMARY

? »

Pending normal tissue analysis

CANCER TISSUE SUMMARY

? »

Pending cancer tissue analysis

CELL LINE SUMMARY

? »

RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

A-431 Skin Low

-

-

A-549 Lung Low

-

-

CACO-2 Colon Low

-

-

HEK 293 Embryonal kidney Low

-

-

HeLa Cervix Medium

-

-

Hep-G2 Liver Low

-

-

MCF-7 Pleural effusion Low

-

-

PC-3 Bone marrow Low

-

-

RT-4 Urinary bladder Low

-

-

U-2 OS Bone Low

-

-

U-251 MG Brain Low

-

-

ANTIBODY SUMMARY

? »

Pending antibodies