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Protein

Bestrophin-4

Gene

BEST4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Forms calcium-sensitive chloride channels. Permeable to bicarbonate.2 Publications

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Calcium, Chloride

Enzyme and pathway databases

BioCyciZFISH:ENSG00000142959-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Names & Taxonomyi

Protein namesi
Recommended name:
Bestrophin-4
Alternative name(s):
Vitelliform macular dystrophy 2-like protein 2
Gene namesi
Name:BEST4
Synonyms:VMD2L2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:17106. BEST4.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 25CytoplasmicSequence analysisAdd BLAST25
Transmembranei26 – 46HelicalSequence analysisAdd BLAST21
Topological domaini47 – 70ExtracellularSequence analysisAdd BLAST24
Transmembranei71 – 91HelicalSequence analysisAdd BLAST21
Topological domaini92 – 178CytoplasmicSequence analysisAdd BLAST87
Transmembranei179 – 199HelicalSequence analysisAdd BLAST21
Topological domaini200 – 228ExtracellularSequence analysisAdd BLAST29
Intramembranei229 – 249Sequence analysisAdd BLAST21
Topological domaini250 – 285ExtracellularSequence analysisAdd BLAST36
Transmembranei286 – 306HelicalSequence analysisAdd BLAST21
Topological domaini307 – 473CytoplasmicSequence analysisAdd BLAST167

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

OpenTargetsiENSG00000142959.
PharmGKBiPA162377520.

Polymorphism and mutation databases

BioMutaiBEST4.
DMDMi38503352.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001431201 – 473Bestrophin-4Add BLAST473

Proteomic databases

PaxDbiQ8NFU0.
PeptideAtlasiQ8NFU0.
PRIDEiQ8NFU0.

PTM databases

iPTMnetiQ8NFU0.
PhosphoSitePlusiQ8NFU0.

Expressioni

Tissue specificityi

Predominantly found in colon and the weakly in fetal brain, spinal cord, retina, lung, trachea, testis and placenta.1 Publication

Gene expression databases

BgeeiENSG00000142959.
CleanExiHS_BEST4.
GenevisibleiQ8NFU0. HS.

Organism-specific databases

HPAiHPA058564.

Interactioni

Protein-protein interaction databases

BioGridi129314. 1 interactor.
IntActiQ8NFU0. 1 interactor.
MINTiMINT-7969671.
STRINGi9606.ENSP00000361281.

Structurei

3D structure databases

ProteinModelPortaliQ8NFU0.
SMRiQ8NFU0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the bestrophin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3547. Eukaryota.
ENOG410XS3J. LUCA.
GeneTreeiENSGT00390000002997.
HOGENOMiHOG000115678.
HOVERGENiHBG044928.
InParanoidiQ8NFU0.
KOiK13881.
OMAiPHSIAVF.
OrthoDBiEOG091G06XO.
PhylomeDBiQ8NFU0.
TreeFamiTF315803.

Family and domain databases

InterProiIPR000615. Bestrophin.
IPR021134. Bestrophin/UPF0187.
[Graphical view]
PANTHERiPTHR10736. PTHR10736. 1 hit.
PfamiPF01062. Bestrophin. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8NFU0-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MTVSYTLKVA EARFGGFSGL LLRWRGSIYK LLYKEFLLFG ALYAVLSITY
60 70 80 90 100
RLLLTQEQRY VYAQVARYCN RSADLIPLSF VLGFYVTLVV NRWWSQYTSI
110 120 130 140 150
PLPDQLMCVI SASVHGVDQR GRLLRRTLIR YANLASVLVL RSVSTRVLKR
160 170 180 190 200
FPTMEHVVDA GFMSQEERKK FESLKSDFNK YWVPCVWFTN LAAQARRDGR
210 220 230 240 250
IRDDIALCLL LEELNKYRAK CSMLFHYDWI SIPLVYTQVV TIAVYSFFAL
260 270 280 290 300
SLVGRQFVEP EAGAAKPQKL LKPGQEPAPA LGDPDMYVPL TTLLQFFFYA
310 320 330 340 350
GWLKVAEQII NPFGEDDDDF ETNQLIDRNL QVSLLSVDEM YQNLPPAEKD
360 370 380 390 400
QYWDEDQPQP PYTVATAAES LRPSFLGSTF NLRMSDDPEQ SLQVEASPGS
410 420 430 440 450
GRPAPAAQTP LLGRFLGVGA PSPAISLRNF GRVRGTPRPP HLLRFRAEEG
460 470
GDPEAAARIE EESAESGDEA LEP
Length:473
Mass (Da):53,497
Last modified:October 1, 2002 - v1
Checksum:iA8538303EE258D65
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04841162Y → C.Corresponds to variant rs16832245dbSNPEnsembl.1
Natural variantiVAR_048412217Y → S.Corresponds to variant rs16832242dbSNPEnsembl.1
Natural variantiVAR_048413331Q → E.Corresponds to variant rs16832241dbSNPEnsembl.1
Natural variantiVAR_048414402R → L.Corresponds to variant rs16832239dbSNPEnsembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF440757 mRNA. Translation: AAM76996.1.
AY515707 mRNA. Translation: AAR99657.1.
AL592166 Genomic DNA. Translation: CAI13005.1.
BC101823 mRNA. Translation: AAI01824.1.
CCDSiCCDS514.1.
RefSeqiNP_695006.1. NM_153274.2.
XP_016856511.1. XM_017001022.1.
XP_016856512.1. XM_017001023.1.
UniGeneiHs.302513.

Genome annotation databases

EnsembliENST00000372207; ENSP00000361281; ENSG00000142959.
GeneIDi266675.
KEGGihsa:266675.
UCSCiuc001cmm.4. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF440757 mRNA. Translation: AAM76996.1.
AY515707 mRNA. Translation: AAR99657.1.
AL592166 Genomic DNA. Translation: CAI13005.1.
BC101823 mRNA. Translation: AAI01824.1.
CCDSiCCDS514.1.
RefSeqiNP_695006.1. NM_153274.2.
XP_016856511.1. XM_017001022.1.
XP_016856512.1. XM_017001023.1.
UniGeneiHs.302513.

3D structure databases

ProteinModelPortaliQ8NFU0.
SMRiQ8NFU0.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi129314. 1 interactor.
IntActiQ8NFU0. 1 interactor.
MINTiMINT-7969671.
STRINGi9606.ENSP00000361281.

PTM databases

iPTMnetiQ8NFU0.
PhosphoSitePlusiQ8NFU0.

Polymorphism and mutation databases

BioMutaiBEST4.
DMDMi38503352.

Proteomic databases

PaxDbiQ8NFU0.
PeptideAtlasiQ8NFU0.
PRIDEiQ8NFU0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000372207; ENSP00000361281; ENSG00000142959.
GeneIDi266675.
KEGGihsa:266675.
UCSCiuc001cmm.4. human.

Organism-specific databases

CTDi266675.
GeneCardsiBEST4.
HGNCiHGNC:17106. BEST4.
HPAiHPA058564.
MIMi607336. gene.
neXtProtiNX_Q8NFU0.
OpenTargetsiENSG00000142959.
PharmGKBiPA162377520.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3547. Eukaryota.
ENOG410XS3J. LUCA.
GeneTreeiENSGT00390000002997.
HOGENOMiHOG000115678.
HOVERGENiHBG044928.
InParanoidiQ8NFU0.
KOiK13881.
OMAiPHSIAVF.
OrthoDBiEOG091G06XO.
PhylomeDBiQ8NFU0.
TreeFamiTF315803.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000142959-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Miscellaneous databases

GenomeRNAii266675.
PROiQ8NFU0.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000142959.
CleanExiHS_BEST4.
GenevisibleiQ8NFU0. HS.

Family and domain databases

InterProiIPR000615. Bestrophin.
IPR021134. Bestrophin/UPF0187.
[Graphical view]
PANTHERiPTHR10736. PTHR10736. 1 hit.
PfamiPF01062. Bestrophin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiBEST4_HUMAN
AccessioniPrimary (citable) accession number: Q8NFU0
Secondary accession number(s): Q5JR93
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 21, 2003
Last sequence update: October 1, 2002
Last modified: November 2, 2016
This is version 115 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.