Best1 bestrophin 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Best1provided by RGD
Official Full Name: bestrophin 1provided by RGD
Primary source: RGD:1311656
See related: Ensembl:ENSRNOG00000020346 AllianceGenome:RGD:1311656
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: Vmd2
Summary: Predicted to enable identical protein binding activity. Predicted to contribute to chloride channel activity. Predicted to be involved in transepithelial chloride transport. Predicted to act upstream of or within chloride transport; detection of light stimulus involved in visual perception; and regulation of calcium ion transport. Predicted to be located in basolateral plasma membrane. Predicted to be part of chloride channel complex. Human ortholog(s) of this gene implicated in autosomal dominant vitreoretinochoroidopathy; bestrophinopathy; macular degeneration; retinitis pigmentosa 50; and vitelliform macular dystrophy. Orthologous to human BEST1 (bestrophin 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Spleen (RPKM 217.9), Testes (RPKM 185.0) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1q43

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (216054395..216071012, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (206629340..206646085, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (226033146..226049893, complement)

Chromosome 1 - NC_086019.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Bestrophin-1 Participates in Neuropathic Pain Induced by Spinal Nerve Transection but not Spinal Nerve Ligation.
Title: Bestrophin-1 Participates in Neuropathic Pain Induced by Spinal Nerve Transection but not Spinal Nerve Ligation.
There is functional anoctamin-1 and bestrophin-1 expression in rats at sites related to nociceptive processing.
Title: Role of anoctamin-1 and bestrophin-1 in spinal nerve ligation-induced neuropathic pain in rats.
mRNA levels for bestrophin-1 and -2 were also significantly reduced by bestrophin-3 down-regulation
Title: Bestrophin is important for the rhythmic but not the tonic contraction in rat mesenteric small arteries.
The presence of bestrophin-1 influences kinetics and voltage-dependence of voltage-dependent Ca2+ channels; these effects might open new ways to understand the mechanisms leading to retinal degeneration in Best's disease.
Title: Expression of bestrophin-1, the product of the VMD2 gene, modulates voltage-dependent Ca2+ channels in retinal pigment epithelial cells.

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General gene information

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Markers

RH124242 (e-PCR)
- UniSTS:161064

BF387442 (e-PCR)
- UniSTS:244359

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables bicarbonate channel activity	IEA Inferred from Electronic Annotation more info
enables bicarbonate channel activity	ISO Inferred from Sequence Orthology more info
contributes_to chloride channel activity	ISO Inferred from Sequence Orthology more info
enables chloride channel activity	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables intracellularly calcium-gated chloride channel activity	IEA Inferred from Electronic Annotation more info
enables intracellularly calcium-gated chloride channel activity	ISO Inferred from Sequence Orthology more info
enables ligand-gated channel activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in bicarbonate transport	IEA Inferred from Electronic Annotation more info
involved_in biological_process	ND No biological Data available more info
involved_in chloride transmembrane transport	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within chloride transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within detection of light stimulus involved in visual perception	ISO Inferred from Sequence Orthology more info
involved_in gamma-aminobutyric acid secretion, neurotransmission	ISO Inferred from Sequence Orthology more info
involved_in glutamate secretion	ISO Inferred from Sequence Orthology more info
involved_in protein complex oligomerization	IEA Inferred from Electronic Annotation more info
involved_in protein complex oligomerization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within regulation of calcium ion transport	ISO Inferred from Sequence Orthology more info
involved_in regulation of synaptic plasticity	ISO Inferred from Sequence Orthology more info
involved_in transepithelial chloride transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in basal plasma membrane	ISO Inferred from Sequence Orthology more info
located_in basolateral plasma membrane	ISO Inferred from Sequence Orthology more info
part_of chloride channel complex	ISO Inferred from Sequence Orthology more info
located_in membrane microdomain	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: bestrophin-1

Names: vitelliform macular dystrophy (Best disease, bestrophin); vitelliform macular dystrophy 2 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.