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BEST3
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  • SUMMARY

  • TISSUE

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  • BEST3
PROTEIN SUMMARY SECTION OVERVIEW GENE INFORMATION RNA DATA ANTIBODY DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

BEST3
Synonyms MGC13168, MGC40411, VMD2L3
Gene descriptioni

Full gene name according to HGNC.

Bestrophin 3
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Transporters
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Membrane, Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 12
Cytoband q15
Chromosome location (bp) 69643360 - 69699476
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

9
Ensembl ENSG00000127325 (version 109)
Entrez gene 144453
HGNC HGNC:17105
UniProt Q8N1M1 (UniProt - Evidence at protein level)
neXtProt NX_Q8N1M1
GeneCards BEST3
Antibodypedia BEST3 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Forms calcium-sensitive chloride channels. Permeable to bicarbonate.... show less
Molecular function (UniProt)i

Keywords assigned by UniProt to proteins due to their particular molecular function.

Chloride channel, Ion channel
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Ion transport, Transport
Ligand (UniProt)i

Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.

Calcium, Chloride
Gene summary (Entrez)i

Useful information about the gene from Entrez

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).[supplied by OMIM, Mar 2008]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
BEST3-201
ENSP00000266661
ENST00000266661
Q8N1M1
[Direct mapping] Bestrophin-3
Show all
Transporters
   Transporter channels and pores
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0003674 [molecular_function]
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006821 [chloride transport]
GO:0008150 [biological_process]
GO:0016020 [membrane]
GO:0034707 [chloride channel complex]
GO:1902476 [chloride transmembrane transport]
Show all
72 aa
8.3 kDa
No 0
BEST3-202
ENSP00000332413
ENST00000330891
Q8N1M1
[Direct mapping] Bestrophin-3
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0003674 [molecular_function]
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006821 [chloride transport]
GO:0008150 [biological_process]
GO:0015698 [inorganic anion transport]
GO:0016020 [membrane]
GO:0034707 [chloride channel complex]
GO:0043271 [negative regulation of ion transport]
GO:1902476 [chloride transmembrane transport]
Show all
668 aa
76.1 kDa
No 4
BEST3-203
ENSP00000329064
ENST00000331471
Q8N1M1
[Direct mapping] Bestrophin-3
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0003674 [molecular_function]
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006821 [chloride transport]
GO:0008150 [biological_process]
GO:0016020 [membrane]
GO:0034707 [chloride channel complex]
GO:1902476 [chloride transmembrane transport]
Show all
398 aa
46.6 kDa
No 4
BEST3-204
ENSP00000434713
ENST00000476098
E9PNM2
[Direct mapping] Bestrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Show all
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006821 [chloride transport]
GO:0016020 [membrane]
GO:0034707 [chloride channel complex]
GO:1902476 [chloride transmembrane transport]
Show all
197 aa
22.8 kDa
No 0
BEST3-205
ENSP00000433213
ENST00000488961
Q8N1M1
[Direct mapping] Bestrophin-3
Show all
Transporters
   Transporter channels and pores
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0003674 [molecular_function]
GO:0005254 [chloride channel activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006821 [chloride transport]
GO:0008150 [biological_process]
GO:0016020 [membrane]
GO:0034707 [chloride channel complex]
GO:1902476 [chloride transmembrane transport]
Show all
455 aa
51 kDa
No 0
BEST3-209
ENSP00000446575
ENST00000548658
F8VR37
[Direct mapping] Bestrophin
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Show all
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006821 [chloride transport]
GO:0016020 [membrane]
GO:0034707 [chloride channel complex]
GO:1902476 [chloride transmembrane transport]
Show all
142 aa
17 kDa
No 1
BEST3-210
ENSP00000449377
ENST00000551160
Q8N1M1
[Direct mapping] Bestrophin-3
Show all
Transporters
   Transporter channels and pores
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0003674 [molecular_function]
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006821 [chloride transport]
GO:0008150 [biological_process]
GO:0016020 [membrane]
GO:0034707 [chloride channel complex]
GO:1902476 [chloride transmembrane transport]
Show all
72 aa
8.3 kDa
No 0
BEST3-211
ENSP00000447689
ENST00000552295
F8VZR0
[Direct mapping] Bestrophin
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Show all
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006821 [chloride transport]
GO:0016020 [membrane]
GO:0034707 [chloride channel complex]
GO:1902476 [chloride transmembrane transport]
Show all
161 aa
18.9 kDa
No 0
BEST3-212
ENSP00000449548
ENST00000553096
Q8N1M1
[Direct mapping] Bestrophin-3
Show all
Transporters
   Transporter channels and pores
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   2TM proteins predicted by MDM
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0003674 [molecular_function]
GO:0005254 [chloride channel activity]
GO:0005886 [plasma membrane]
GO:0006811 [ion transport]
GO:0006821 [chloride transport]
GO:0008150 [biological_process]
GO:0016020 [membrane]
GO:0034707 [chloride channel complex]
GO:1902476 [chloride transmembrane transport]
Show all
562 aa
63.4 kDa
No 2

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