Tissue expression of BEST1 - Summary - The Human Protein Atlas

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BEST1

TISSUE

CELL

PATHOLOGY

TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation

Dictionary


Tissue proteome

GENERAL INFORMATION
Gene name	BEST1
Gene description	Bestrophin 1
Protein class	Disease related genes Potential drug targets Predicted intracellular proteins Predicted membrane proteins Transporters
Predicted localization	Intracellular,Membrane
Number of transcripts	4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category

HPA:	Mixed
GTEx:	Mixed
FANTOM5:	Tissue enriched (retina)

Protein evidence

Evidence at protein level

Protein expression

Membrane expression in retina pigment epithelium.

DATA RELIABILITY
Data reliability description	External characterization data supports antibody staining but no internal RNA data available for correlation. Antibody staining in cells/structures not annotated, view images.
Reliability score	Supported based on 1 antibody. HPA057464
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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM)

Protein expression (score)

Brain

Cerebral cortex

Hippocampus

N/A

Caudate

N/A

Cerebellum

N/A

Endocrine tissues

Thyroid gland

Parathyroid gland

Adrenal gland

Bone marrow & immune system

Appendix

Bone marrow

Lymph node

Tonsil

Spleen

Muscle tissues

Heart muscle

Skeletal muscle

Smooth muscle

Lung

Nasopharynx

N/A

Bronchus

N/A

Lung

Liver & gallbladder

Liver

Gallbladder

Pancreas

Pancreas

Gastrointestinal tract

Oral mucosa

N/A

Salivary gland

Esophagus

Stomach

Duodenum

Small intestine

Colon

Rectum

Kidney & urinary bladder

Kidney

Urinary bladder

Male tissues

Testis

Epididymis

Prostate

Seminal vesicle

Female tissues

Breast

Vagina

N/A

Cervix, uterine

Endometrium

Fallopian tube

Ovary

Placenta

Adipose & soft tissue

Adipose tissue

Soft tissue

N/A

Skin

Skin

Eye

N/A

Retina

N/A

Cerebral cortex

PROTEIN EXPRESSION OVERVIEW
Organ Expression Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset Organ Expression Alphabetical RNA tissue category: Mixed
GTEx dataset Organ Expression Alphabetical RNA tissue category: Mixed
FANTOM5 dataset Organ Expression Alphabetical RNA tissue category: Tissue enriched (retina)

GENE INFORMATION
Gene name	BEST1 (HGNC Symbol)
Synonyms	BEST, BMD, RP50, VMD2
Description	Bestrophin 1 (HGNC Symbol)
Entrez gene 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]
Chromosome	11
Cytoband	q12.3
Chromosome location (bp)	61949821 - 61965515
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000167995 (version 83.38)
Entrez gene	7439
UniProt	O76090 (UniProt - Evidence at protein level)
neXtProt	NX_O76090
Antibodypedia	BEST1 antibodies

PROTEIN BROWSER

BEST1-001	BEST1-002	BEST1-004	BEST1-006

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
BEST1-001 ENSP00000367282 ENST00000378043	O76090 [Direct mapping] Bestrophin-1 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 Disease related genes Potential drug targets Show all	GO:0005254 [chloride channel activity] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006821 [chloride transport] GO:0007601 [visual perception] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016323 [basolateral plasma membrane] GO:0030321 [transepithelial chloride transport] GO:0034220 [ion transmembrane transport] GO:0034707 [chloride channel complex] GO:0055085 [transmembrane transport] GO:1902476 [chloride transmembrane transport] Show all	585 aa 67.7 kDa	No	4
BEST1-002 ENSP00000399709 ENST00000449131	O76090 [Direct mapping] Bestrophin-1 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 3TM proteins predicted by MDM Disease related genes Potential drug targets Show all	GO:0005254 [chloride channel activity] GO:0005829 [cytosol] GO:0005886 [plasma membrane] GO:0005887 [integral component of plasma membrane] GO:0006821 [chloride transport] GO:0007601 [visual perception] GO:0016020 [membrane] GO:0016021 [integral component of membrane] GO:0016323 [basolateral plasma membrane] GO:0030321 [transepithelial chloride transport] GO:0034220 [ion transmembrane transport] GO:0034707 [chloride channel complex] GO:0050908 [detection of light stimulus involved in visual perception] GO:0051924 [regulation of calcium ion transport] GO:0055085 [transmembrane transport] GO:1902476 [chloride transmembrane transport] Show all	604 aa 69.1 kDa	No	3
BEST1-004 ENSP00000431189 ENST00000534553	E9PMB5 [Direct mapping] Bestrophin-1 Show all	Predicted intracellular proteins Show all		55 aa 6.1 kDa	No	0
BEST1-006 ENSP00000433195 ENST00000526988	B7Z1N8 [Direct mapping] Bestrophin-1; cDNA FLJ51778, highly similar to Bestrophin-1 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 # TM segments-based 2TM proteins predicted by MDM Show all		329 aa 37.6 kDa	No	2

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The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.