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Q8NFU0 (BEST4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 96. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Bestrophin-4
Alternative name(s):
Vitelliform macular dystrophy 2-like protein 2
Gene names
Name:BEST4
Synonyms:VMD2L2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length473 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Forms calcium-sensitive chloride channels. Permeable to bicarbonate. Ref.2 Ref.5

Subcellular location

Cell membrane; Multi-pass membrane protein.

Tissue specificity

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

Sequence similarities

Belongs to the bestrophin family.

Ontologies

Keywords
   Biological processIon transport
Transport
   Cellular componentCell membrane
Membrane
   Coding sequence diversityPolymorphism
   DomainTransmembrane
Transmembrane helix
   LigandCalcium
Chloride
   Molecular functionChloride channel
Ion channel
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Cellular_componentchloride channel complex

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular_functionchloride channel activity

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 473473Bestrophin-4
PRO_0000143120

Regions

Topological domain1 – 2525Cytoplasmic Potential
Transmembrane26 – 4621Helical; Potential
Topological domain47 – 7024Extracellular Potential
Transmembrane71 – 9121Helical; Potential
Topological domain92 – 17887Cytoplasmic Potential
Transmembrane179 – 19921Helical; Potential
Topological domain200 – 22829Extracellular Potential
Intramembrane229 – 24921 Potential
Topological domain250 – 28536Extracellular Potential
Transmembrane286 – 30621Helical; Potential
Topological domain307 – 473167Cytoplasmic Potential

Natural variations

Natural variant621Y → C.
Corresponds to variant rs16832245 [ dbSNP | Ensembl ].
VAR_048411
Natural variant2171Y → S.
Corresponds to variant rs16832242 [ dbSNP | Ensembl ].
VAR_048412
Natural variant3311Q → E.
Corresponds to variant rs16832241 [ dbSNP | Ensembl ].
VAR_048413
Natural variant4021R → L.
Corresponds to variant rs16832239 [ dbSNP | Ensembl ].
VAR_048414

Sequences

Sequence LengthMass (Da)Tools
Q8NFU0 [UniParc].

Last modified October 1, 2002. Version 1.
Checksum: A8538303EE258D65

FASTA47353,497
        10         20         30         40         50         60 
MTVSYTLKVA EARFGGFSGL LLRWRGSIYK LLYKEFLLFG ALYAVLSITY RLLLTQEQRY 

        70         80         90        100        110        120 
VYAQVARYCN RSADLIPLSF VLGFYVTLVV NRWWSQYTSI PLPDQLMCVI SASVHGVDQR 

       130        140        150        160        170        180 
GRLLRRTLIR YANLASVLVL RSVSTRVLKR FPTMEHVVDA GFMSQEERKK FESLKSDFNK 

       190        200        210        220        230        240 
YWVPCVWFTN LAAQARRDGR IRDDIALCLL LEELNKYRAK CSMLFHYDWI SIPLVYTQVV 

       250        260        270        280        290        300 
TIAVYSFFAL SLVGRQFVEP EAGAAKPQKL LKPGQEPAPA LGDPDMYVPL TTLLQFFFYA 

       310        320        330        340        350        360 
GWLKVAEQII NPFGEDDDDF ETNQLIDRNL QVSLLSVDEM YQNLPPAEKD QYWDEDQPQP 

       370        380        390        400        410        420 
PYTVATAAES LRPSFLGSTF NLRMSDDPEQ SLQVEASPGS GRPAPAAQTP LLGRFLGVGA 

       430        440        450        460        470 
PSPAISLRNF GRVRGTPRPP HLLRFRAEEG GDPEAAARIE EESAESGDEA LEP 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF440757 mRNA. Translation: AAM76996.1.
AY515707 mRNA. Translation: AAR99657.1.
AL592166 Genomic DNA. Translation: CAI13005.1.
BC101823 mRNA. Translation: AAI01824.1.
CCDSCCDS514.1.
RefSeqNP_695006.1. NM_153274.2.
XP_005270805.1. XM_005270748.2.
UniGeneHs.302513.

3D structure databases

ProteinModelPortalQ8NFU0.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid129314. 1 interaction.
IntActQ8NFU0. 1 interaction.
MINTMINT-7969671.

Polymorphism databases

DMDM38503352.

Proteomic databases

PaxDbQ8NFU0.
PRIDEQ8NFU0.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000372207; ENSP00000361281; ENSG00000142959.
GeneID266675.
KEGGhsa:266675.
UCSCuc001cmm.3. human.

Organism-specific databases

CTD266675.
GeneCardsGC01M045249.
HGNCHGNC:17106. BEST4.
HPAHPA058564.
MIM607336. gene.
neXtProtNX_Q8NFU0.
PharmGKBPA162377520.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG315004.
HOGENOMHOG000115678.
HOVERGENHBG044928.
InParanoidQ8NFU0.
KOK13881.
OMAVEEHMAK.
OrthoDBEOG7N0C43.
PhylomeDBQ8NFU0.
TreeFamTF315803.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

BgeeQ8NFU0.
CleanExHS_BEST4.
GenevestigatorQ8NFU0.

Family and domain databases

InterProIPR000615. Bestrophin.
IPR021134. Bestrophin/UPF0187.
[Graphical view]
PANTHERPTHR10736. PTHR10736. 1 hit.
PfamPF01062. Bestrophin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi266675.
NextBio93293.
PROQ8NFU0.
SOURCESearch...

Entry information

Entry nameBEST4_HUMAN
AccessionPrimary (citable) accession number: Q8NFU0
Secondary accession number(s): Q5JR93
Entry history
Integrated into UniProtKB/Swiss-Prot: November 21, 2003
Last sequence update: October 1, 2002
Last modified: July 9, 2014
This is version 96 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM