Seroatlas · Human Serome Atlas

BEST1

Bestrophin-1

Also known as: BEST, BEST1_HUMAN, BMD, RP50, VMD2

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O76090
Gene
BEST1
Ensembl
ENSG00000167995
Chromosome
11
Canonical length
585 aa
Protein class
Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

585 residues, UniProt reviewed canonical sequence.

>O76090|BEST1
     1  MTITYTSQVA NARLGSFSRL LLCWRGSIYK LLYGEFLIFL LCYYIIRFIY RLALTEEQQL
    61  MFEKLTLYCD SYIQLIPISF VLGFYVTLVV TRWWNQYENL PWPDRLMSLV SGFVEGKDEQ
   121  GRLLRRTLIR YANLGNVLIL RSVSTAVYKR FPSAQHLVQA GFMTPAEHKQ LEKLSLPHNM
   181  FWVPWVWFAN LSMKAWLGGR IRDPILLQSL LNEMNTLRTQ CGHLYAYDWI SIPLVYTQVV
   241  TVAVYSFFLT CLVGRQFLNP AKAYPGHELD LVVPVFTFLQ FFFYVGWLKV AEQLINPFGE
   301  DDDDFETNWI VDRNLQVSLL AVDEMHQDLP RMEPDMYWNK PEPQPPYTAA SAQFRRASFM
   361  GSTFNISLNK EEMEFQPNQE DEEDAHAGII GRFLGLQSHD HHPPRANSRT KLLWPKRESL
   421  LHEGLPKNHK AAKQNVRGQE DNKAWKLKAV DAFKSAPLYQ RPGYYSAPQT PLSPTPMFFP
   481  LEPSAPSKLH SVTGIDTKDK SLKTVSSGAK KSFELLSESD GALMEHPEVS QVRRKTVEFN
   541  LTDMPEIPEN HLKEPLEQSP TNIHTTLKDH MDPYWALENR DEAHS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BEST1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
4
Mean surface accessibility (rSASA)
0.48
Highest tissue expression
31 nTPM

Expression across tissuesHPA

Tissue

  • spinal cord: 31 nTPM
  • bone marrow: 25 nTPM
  • basal ganglia: 22 nTPM
  • midbrain: 21 nTPM
  • hippocampal formation: 17 nTPM
  • amygdala: 14 nTPM

Single-cell type

  • retinal pigment epithelial cells: 2,068 nCPM
  • epicardial cells: 998 nCPM
  • cardiomyocytes: 271 nCPM
  • neutrophils: 200 nCPM
  • adipocytes: 73 nCPM
  • oligodendrocytes: 63 nCPM

Immune cell

  • neutrophil: 38 nTPM
  • non-classical monocyte: 5.1 nTPM
  • intermediate monocyte: 4.6 nTPM
  • classical monocyte: 4 nTPM
  • eosinophil: 3.9 nTPM
  • basophil: 2.7 nTPM

Brain region

  • white matter: 70 nTPM
  • basal ganglia: 48 nTPM
  • thalamus: 45 nTPM
  • medulla oblongata: 44 nTPM
  • midbrain: 43 nTPM
  • cerebral cortex: 41 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BEST1.

Disease | AllUniProt

Conditions BEST1 is implicated in, by any mechanism.

Disease | GeneticClinVar

328 pathogenic / likely-pathogenic of 962 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Retinal dystrophy
  • Vitelliform macular dystrophy 2
  • Autosomal recessive bestrophinopathy
  • Autosomal dominant vitreoretinochoroidopathy
  • BEST1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.49
gnomAD pLI
0
gnomAD missense Z
0.62
DepMap mean gene effect
0.04
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BEST1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BEST1 as an antibody target. Whether an autoantibody or antibody against BEST1 could matter depends on whether native BEST1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BEST1 is annotated at the cell surface, where native BEST1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label BEST1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/BEST1. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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