Bestrophin 1

BEST1
Identifiers
Aliases BEST1, ARB, BEST, BMD, RP50, TU15B, VMD2, Bestrophin 1
External IDs MGI: 1346332 HomoloGene: 37895 GeneCards: BEST1
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

7439

24115

Ensembl

ENSG00000167995

ENSMUSG00000037418

UniProt

O76090

O88870

RefSeq (mRNA)

NM_001139443
NM_001300786
NM_001300787
NM_004183

NM_011913

RefSeq (protein)

NP_001132915.1
NP_001287715.1
NP_001287716.1
NP_004174.1

NP_036043.2

Location (UCSC) Chr 11: 61.95 – 61.97 Mb Chr 19: 9.99 – 10 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

Bestrophin-1 is a protein that in humans is encoded by the BEST1 gene.[3][4][5]

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.[6]

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.[5][7][8]

BEST1 has been shown by two independent studies to be regulated by Microphthalmia-associated transcription factor.[9][10]

Interactions

Bestrophin 1 has been shown to interact with PPP2CA.[11]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. 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.
  4. 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 2785573Freely accessible. PMID 17003041.
  5. 1 2 "Entrez Gene: BEST1 bestrophin 1".
  6. 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.
  7. 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.
  8. 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 2885917Freely accessible. PMID 12907679.
  9. 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.
  10. 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.
  11. 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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