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BEST1 bestrophin 1 [ Homo sapiens (human) ]

Gene ID: 7439, updated on 21-Mar-2015
Official Symbol
BEST1provided by HGNC
Official Full Name
bestrophin 1provided by HGNC
Primary source
HGNC:HGNC:12703
See related
Ensembl:ENSG00000167995; HPRD:01094; MIM:607854; Vega:OTTHUMG00000167469
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ARB; BMD; BEST; RP50; VMD2; TU15B
Summary
This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.[provided by RefSeq, Nov 2008]
Orthologs
See BEST1 in MapViewer
Location:
11q13
Exon count:
13
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (61946715..61964463)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (61717356..61731935)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene fatty acid desaturase 3 Neighboring gene microRNA 6746 Neighboring gene RAB3A interacting protein (rabin3)-like 1 Neighboring gene uncharacterized LOC399900 Neighboring gene ferritin, heavy polypeptide 1 Neighboring gene ribosomal protein S2 pseudogene 37

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Bestrophinopathy, autosomal recessive
MedGen: C2678493 OMIM: 611809 GeneReviews: Not available
Compare labs
Retinitis pigmentosa 50
MedGen: C2750788 OMIM: 613194 GeneReviews: Retinitis Pigmentosa Overview
Compare labs
Vitelliform dystrophy Compare labs
Vitreoretinochoroidopathy dominant
MedGen: C1860406 OMIM: 193220 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
NHGRI GWA Catalog
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
NHGRI GWA Catalog
Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
NHGRI GWA Catalog
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Orphan transporters, organism-specific biosystem (from REACTOME)
    Orphan transporters, organism-specific biosystemThis section contains known or putative transporters that are either directly involved in a transport process or, through their binding to other proteins, assist in a transport process (Purves 2001, ...
  • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
    Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
chloride transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
chloride transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
chloride transport IDA
Inferred from Direct Assay
more info
PubMed 
detection of light stimulus involved in visual perception IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
regulation of calcium ion transport IEA
Inferred from Electronic Annotation
more info
 
transepithelial chloride transport IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane transport TAS
Traceable Author Statement
more info
 
visual perception TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
basolateral plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
chloride channel complex IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
PubMed 
integral component of membrane TAS
Traceable Author Statement
more info
PubMed 
membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
bestrophin-1
Names
bestrophin-1
Best disease
Best1V1Delta2
vitelliform macular dystrophy protein 2

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.

Genomic

  1. NG_009033.1 RefSeqGene

    Range
    5001..19580
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001139443.1NP_001132915.1  bestrophin-1 isoform 2

    See proteins identical to NP_001132915.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (2).
    Source sequence(s)
    AF057169, BC015220, BC041664
    Consensus CDS
    CCDS44623.1
    UniProtKB/Swiss-Prot
    O76090
    Conserved Domains (1) summary
    pfam01062
    Location:2257
    Bestrophin; Bestrophin, RFP-TM, chloride channel
  2. NM_001300786.1NP_001287715.1  bestrophin-1 isoform 3

    See proteins identical to NP_001287715.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon and differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (3) lacks an alternate internal segment and has a shorter and distinct C-terminus compared to isoform 2.
    Source sequence(s)
    AP003733, BC015220
    UniProtKB/Swiss-Prot
    O76090
    Conserved Domains (1) summary
    pfam01062
    Location:2231
    Bestrophin; Bestrophin, RFP-TM, chloride channel
  3. NM_001300787.1NP_001287716.1  bestrophin-1 isoform 4

    See proteins identical to NP_001287716.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (4) has a shorter and distinct C-terminus compared to isoform 2.
    Source sequence(s)
    AK295998, AP003733, BC015220
    UniProtKB/Swiss-Prot
    O76090
    Conserved Domains (1) summary
    pfam01062
    Location:2257
    Bestrophin; Bestrophin, RFP-TM, chloride channel
  4. NM_004183.3NP_004174.1  bestrophin-1 isoform 1

    See proteins identical to NP_004174.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence and in the 3' UTR and coding sequence compared to variant 2. The resulting isoform (1) is longer at the N-terminus and has a shorter and distinct C-terminus compared to isoform 2.
    Source sequence(s)
    AF057169, BC015220
    Consensus CDS
    CCDS31580.1
    UniProtKB/Swiss-Prot
    O76090
    Related
    ENSP00000367282, OTTHUMP00000235994, ENST00000378043, OTTHUMT00000394715
    Conserved Domains (1) summary
    pfam01062
    Location:15317
    Bestrophin; Bestrophin, RFP-TM, chloride channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    61946715..61964463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011545229.1XP_011543531.1  

    See proteins identical to XP_011543531.1

    Conserved Domains (1) summary
    pfam01062
    Location:15317
    Bestrophin; Bestrophin, RFP-TM, chloride channel
  2. XM_011545230.1XP_011543532.1  

    Conserved Domains (1) summary
    pfam01062
    Location:31286
    Bestrophin; Bestrophin, RFP-TM, chloride channel
  3. XM_005274210.2XP_005274267.1  

    See proteins identical to XP_005274267.1

    Conserved Domains (1) summary
    pfam01062
    Location:15317
    Bestrophin; Bestrophin, RFP-TM, chloride channel
  4. XM_011545231.1XP_011543533.1  

    Conserved Domains (1) summary
    pfam01062
    Location:1211
    Bestrophin; Bestrophin, RFP-TM, chloride channel
  5. XM_005274219.2XP_005274276.1  

    Conserved Domains (1) summary
    pfam01062
    Location:15289
    Bestrophin; Bestrophin, RFP-TM, chloride channel
  6. XM_005274221.2XP_005274278.1  

    See proteins identical to XP_005274278.1

    UniProtKB/TrEMBL
    B7Z375
    Conserved Domains (1) summary
    pfam01062
    Location:15238
    Bestrophin; Bestrophin, RFP-TM, chloride channel
  7. XM_011545232.1XP_011543534.1  

    See proteins identical to XP_011543534.1

    Conserved Domains (1) summary
    pfam01062
    Location:15291
    Bestrophin; Bestrophin, RFP-TM, chloride channel
  8. XM_005274218.3XP_005274275.1  

    See proteins identical to XP_005274275.1

    UniProtKB/TrEMBL
    B7Z1N8
    Conserved Domains (1) summary
    pfam01062
    Location:1185
    Bestrophin; Bestrophin, RFP-TM, chloride channel
  9. XM_005274216.2XP_005274273.1  

    Conserved Domains (1) summary
    pfam01062
    Location:2231
    Bestrophin; Bestrophin, RFP-TM, chloride channel
  10. XM_005274215.2XP_005274272.1  

    See proteins identical to XP_005274272.1

    UniProtKB/Swiss-Prot
    O76090
    Conserved Domains (1) summary
    pfam01062
    Location:1211
    Bestrophin; Bestrophin, RFP-TM, chloride channel
  11. XM_011545233.1XP_011543535.1  

    Conserved Domains (1) summary
    cl01544
    Location:736
    Bestrophin; Bestrophin, RFP-TM, chloride channel

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    61600555..61615131
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)