BEST3:Bestrophin-3

Gene Name
Bestrophin-3
Protein ID
Q8N1M1
Chromosome ID
12
HPP Status
2
Protein Name
Bestrophin-3
Synonyms

Vitelliform macular dystrophy 2-like protein 3

bestrophin-3

VMD2L3

bestrophin 3

vitelliform macular dystrophy 2-like 3

vitelliform macular dystrophy 2-like protein 3


[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEST3 ]
Chromosomal Position
12q15 | Start:69643360 End:69643360
Sequence
Q8N1M1.fasta
Description

Entrez Gene Summary for BEST3
BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). 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. 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 (Stohr et al., 2002 (PubMed 12032738); Tsunenari et al., 2003 (PubMed 12907679)).(supplied by OMIM, Mar 2008)

UniProtKB Summary for BEST3
Function: Forms calcium-sensitive (By similarity) chloride channels. Permeable to bicarbonate (By similarity)

[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEST3 ]
External IDs
Hgnc ID: 17105 EntrezGene ID: 144453 Ensembl ID: ENSG00000127325
[Reference: http://www.genecards.org/cgi-bin/carddisp.pl?gene=BEST3 ]
Reference Source
http://www.nextprot.org

Gene Reference Into Function (GeneRIF)


PubMed IDGeneRIF TextLast Update
12032738identified three novel VMD2-related human genes demonstrating a high degree of conservation in their respective RFP-TM domains [VMD2L1, VMD2L2, VMD2L3]2010-01-21
17442670These results suggest that an auto-inhibitory mechanism in C termini of bestrophin 3 may be universal among bestrophins investigated in the study.2010-01-21
19237432Results provide evidence that the bestrophins are expressed in pancreatic duct cells and, more specifically, that hBest1 plays a role in the calcium activated chloride channels found in these cells.2010-01-21
25329324results demonstrated that Best-3 is an endogenous inhibitor of NF-kappaB signaling pathway in endothelial cells, suggesting that forced Best-3 expression may be a novel approach for the treatment of vascular inflammatory diseases.2015-07-04
Reference
http://www.ncbi.nlm.nih.gov/gene/about-generif
ftp://ftp.ncbi.nih.gov/gene/GeneRIF/

OMICSDI Browser



Relevant citations within the PubMed literature

         

Putative/known Functions



Localisation



Homologues, Orthologues, Paralogues and Family



Sequence Similarity and Functional Annotation


Sequence Similarity

Db NameQuery UniSubject UniSequence LengthAlignment LengthIdentityCoverageMismatchesGap OpeningsQuery StartQuery EndSubject StartSubject EndEvalueBit Score
Reviewed non-human mammalian with experimental evidenceBEST3_HUMANBEST1_PIG66821862.8432.6381015637332201E-82303
Reference
Islam MT, Garg G, Hancock WS, Risk BA, Baker MS, Ranganathan S (2014) Protannotator: A Semiautomated Pipeline for Chromosome-Wise Functional Annotation of the "Missing" Human Proteome. J Proteome Res. 13, 76-83.

Post Translational Modifications



Protein Protein Interactions



Best Available Mass Spectra without FDR




gpmDB

Evidence File
/mnt/mpp/ms_data/Q8N1M1_gpmdb.txt
Reference
Fenyö, David; Beavis, Ronald C. (2015). "The GPMDB REST interface". Bioinformatics 31 (12): 2056–2058. doi:10.1093/bioinformatics/btv107. ISSN 1367-4803.
http://gpmdb.thegpm.org/ ">Global Proteome Machine Database - THE GPM


PRIDE

Peptide SequenceScoresPride IDSpectrum IDAnnotation
No results found.
Evidence File
/mnt/mpp/ms_data/Q8N1M1_pridedb.txt
Reference
Vizcaino JA, et al. 2016 update of the PRIDE database and related tools. Nucleic Acids Res. 2016 Jan 1;44(D1):D447-D456.
https://www.ebi.ac.uk/pride/archive/ ">PRIDE Archive


Proteomics DB

Evidence File
/mnt/mpp/ms_data/Q8N1M1_protdb.txt
Reference
Wilhelm, M et al. (2014) Mass-spectrometry-based draft of the human proteome. Nature. 509:582-7.
https://www.proteomicsdb.org/ ">Proteomics DB