Bestrophin 1

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Bestrophin 1
Identifiers
Symbols BEST1 ; ARB; BEST; BMD; RP50; TU15B; VMD2
External IDs OMIM607854 MGI1346332 HomoloGene37895 GeneCards: BEST1 Gene
RNA expression pattern
PBB GE BEST1 207671 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 7439 24115
Ensembl ENSG00000167995 ENSMUSG00000037418
UniProt O76090 O88870
RefSeq (mRNA) NM_001139443 NM_011913
RefSeq (protein) NP_001132915 NP_036043
Location (UCSC) Chr 11:
61.72 – 61.73 Mb
Chr 19:
9.99 – 10 Mb
PubMed search [1] [2]

Bestrophin-1 is a protein that in humans is encoded by the BEST1 gene.123

It can be associated with Vitelliform macular dystrophy.

Function

BEST1 belongs to the bestrophin family of calcium-activated anion channels, which includes BEST2, BEST3, and BEST4. Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. Bestrophins are believed to function as chloride channels that may also serve as regulators of intracellular calcium signalling.4

Bestrophin 1 was shown to be permeable for chloride, thiocyanate, bicarbonate, glutamate, and GABA. Bestrophin 1-mediated GABA release has recently been demonstrated to be responsible for tonic inhibition in cerebellar granule cells.5

Gene structure

The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length.367

BEST1 has been shown by two independent studies to be regulated by Microphthalmia-associated transcription factor.89

Interactions

Bestrophin 1 has been shown to interact with PPP2CA.10

References

  1. ^ Stone EM, Nichols BE, Streb LM, Kimura AE, Sheffield VC (Jun 1993). "Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13". Nat Genet 1 (4): 246–50. doi:10.1038/ng0792-246. PMID 1302019. 
  2. ^ Barro Soria R, Spitzner M, Schreiber R, Kunzelmann K (Sep 2006). "Bestrophin 1 enables Ca2+ activated Cl conductance in epithelia". J Biol Chem 284 (43): 29405–12. doi:10.1074/jbc.M605716200. PMC 2785573. PMID 17003041. 
  3. ^ a b "Entrez Gene: BEST1 bestrophin 1". 
  4. ^ Hartzell HC, Qu Z, Yu K, Xiao Q, Chien LT (April 2008). "Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies". Physiol. Rev. 88 (2): 639–72. doi:10.1152/physrev.00022.2007. PMID 18391176. 
  5. ^ Lee S, Yoon BE, Berglund K, Oh SJ, Park H, Shin HS, Augustine GJ, Lee CJ (November 2010). "Channel-mediated tonic GABA release from glia". Science 330 (6005): 790–6. doi:10.1126/science.1184334. PMID 20929730. 
  6. ^ Stöhr H, Marquardt A, Nanda I, Schmid M, Weber BH (April 2002). "Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family". Eur. J. Hum. Genet. 10 (4): 281–4. doi:10.1038/sj.ejhg.5200796. PMID 12032738. 
  7. ^ Tsunenari T, Sun H, Williams J, Cahill H, Smallwood P, Yau KW, Nathans J (October 2003). "Structure-function analysis of the bestrophin family of anion channels". J. Biol. Chem. 278 (42): 41114–25. doi:10.1074/jbc.M306150200. PMC 2885917. PMID 12907679. 
  8. ^ Esumi N, Kachi S, Campochiaro PA, Zack DJ (2007). "VMD2 promoter requires two proximal E-box sites for its activity in vivo and is regulated by the MITF-TFE family". J. Biol. Chem. 282 (3): 1838–50. doi:10.1074/jbc.M609517200. PMID 17085443. 
  9. ^ Hoek KS, Schlegel NC, Eichhoff OM, Widmer DS, Praetorius C, Einarsson SO, Valgeirsdottir S, Bergsteinsdottir K, Schepsky A, Dummer R, Steingrimsson E (2008). "Novel MITF targets identified using a two-step DNA microarray strategy". Pigment Cell Melanoma Res. 21 (6): 665–76. doi:10.1111/j.1755-148X.2008.00505.x. PMID 19067971. 
  10. ^ Marmorstein LY, McLaughlin PJ, Stanton JB, Yan L, Crabb JW, Marmorstein AD (2002). "Bestrophin interacts physically and functionally with protein phosphatase 2A". J. Biol. Chem. 277 (34): 30591–7. doi:10.1074/jbc.M204269200. PMID 12058047. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.









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