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Q8NFU0

- BEST4_HUMAN

UniProt

Q8NFU0 - BEST4_HUMAN

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Protein

Bestrophin-4

Gene

BEST4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli

Functioni

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

GO - Molecular functioni

  1. chloride channel activity Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Calcium, Chloride

Enzyme and pathway databases

ReactomeiREACT_160189. Stimuli-sensing channels.
REACT_267716. Orphan transporters.

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
ProteomesiUP000005640: Chromosome 1

Organism-specific databases

HGNCiHGNC:17106. BEST4.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2525CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei26 – 4621HelicalSequence AnalysisAdd
BLAST
Topological domaini47 – 7024ExtracellularSequence AnalysisAdd
BLAST
Transmembranei71 – 9121HelicalSequence AnalysisAdd
BLAST
Topological domaini92 – 17887CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei179 – 19921HelicalSequence AnalysisAdd
BLAST
Topological domaini200 – 22829ExtracellularSequence AnalysisAdd
BLAST
Intramembranei229 – 24921Sequence AnalysisAdd
BLAST
Topological domaini250 – 28536ExtracellularSequence AnalysisAdd
BLAST
Transmembranei286 – 30621HelicalSequence AnalysisAdd
BLAST
Topological domaini307 – 473167CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. chloride channel complex Source: UniProtKB-KW
  2. plasma membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162377520.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 473473Bestrophin-4PRO_0000143120Add
BLAST

Proteomic databases

PaxDbiQ8NFU0.
PRIDEiQ8NFU0.

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

BgeeiQ8NFU0.
CleanExiHS_BEST4.
GenevestigatoriQ8NFU0.

Organism-specific databases

HPAiHPA058564.

Interactioni

Protein-protein interaction databases

BioGridi129314. 1 interaction.
IntActiQ8NFU0. 1 interaction.
MINTiMINT-7969671.

Structurei

3D structure databases

ProteinModelPortaliQ8NFU0.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the bestrophin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG315004.
GeneTreeiENSGT00390000002997.
HOGENOMiHOG000115678.
HOVERGENiHBG044928.
InParanoidiQ8NFU0.
KOiK13881.
OMAiVEEHMAK.
OrthoDBiEOG7N0C43.
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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti62 – 621Y → C.
Corresponds to variant rs16832245 [ dbSNP | Ensembl ].
VAR_048411
Natural varianti217 – 2171Y → S.
Corresponds to variant rs16832242 [ dbSNP | Ensembl ].
VAR_048412
Natural varianti331 – 3311Q → E.
Corresponds to variant rs16832241 [ dbSNP | Ensembl ].
VAR_048413
Natural varianti402 – 4021R → L.
Corresponds to variant rs16832239 [ dbSNP | Ensembl ].
VAR_048414

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_005270805.1. XM_005270748.2.
UniGeneiHs.302513.

Genome annotation databases

EnsembliENST00000372207; ENSP00000361281; ENSG00000142959.
GeneIDi266675.
KEGGihsa:266675.
UCSCiuc001cmm.3. human.

Polymorphism databases

DMDMi38503352.

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 .
CCDSi CCDS514.1.
RefSeqi NP_695006.1. NM_153274.2.
XP_005270805.1. XM_005270748.2.
UniGenei Hs.302513.

3D structure databases

ProteinModelPortali Q8NFU0.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 129314. 1 interaction.
IntActi Q8NFU0. 1 interaction.
MINTi MINT-7969671.

Polymorphism databases

DMDMi 38503352.

Proteomic databases

PaxDbi Q8NFU0.
PRIDEi Q8NFU0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000372207 ; ENSP00000361281 ; ENSG00000142959 .
GeneIDi 266675.
KEGGi hsa:266675.
UCSCi uc001cmm.3. human.

Organism-specific databases

CTDi 266675.
GeneCardsi GC01M045249.
HGNCi HGNC:17106. BEST4.
HPAi HPA058564.
MIMi 607336. gene.
neXtProti NX_Q8NFU0.
PharmGKBi PA162377520.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG315004.
GeneTreei ENSGT00390000002997.
HOGENOMi HOG000115678.
HOVERGENi HBG044928.
InParanoidi Q8NFU0.
KOi K13881.
OMAi VEEHMAK.
OrthoDBi EOG7N0C43.
PhylomeDBi Q8NFU0.
TreeFami TF315803.

Enzyme and pathway databases

Reactomei REACT_160189. Stimuli-sensing channels.
REACT_267716. Orphan transporters.

Miscellaneous databases

GenomeRNAii 266675.
NextBioi 93293.
PROi Q8NFU0.
SOURCEi Search...

Gene expression databases

Bgeei Q8NFU0.
CleanExi HS_BEST4.
Genevestigatori Q8NFU0.

Family and domain databases

InterProi IPR000615. Bestrophin.
IPR021134. Bestrophin/UPF0187.
[Graphical view ]
PANTHERi PTHR10736. PTHR10736. 1 hit.
Pfami PF01062. Bestrophin. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family."
    Stoehr H., Marquardt A., Nanda I., Schmid M., Weber B.H.F.
    Eur. J. Hum. Genet. 10:281-284(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
  2. "Structure-function analysis of the bestrophin family of anion channels."
    Tsunenari T., Sun H., Williams J., Cahill H., Smallwood P., Yau K.-W., Nathans J.
    J. Biol. Chem. 278:41114-41125(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION.
  3. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "Bestrophin Cl- channels are highly permeable to HCO3-."
    Qu Z., Hartzell H.C.
    Am. J. Physiol. 294:C1371-C1377(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION.

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 26, 2014
This is version 100 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

External Data

Dasty 3