Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q8NFU0

- BEST4_HUMAN

UniProt

Q8NFU0 - BEST4_HUMAN

Protein

Bestrophin-4

Gene

BEST4

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 98 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

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

    GO - Molecular functioni

    1. chloride channel activity Source: UniProtKB-KW

    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.

    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

    GO - Cellular componenti

    1. chloride channel complex Source: UniProtKB-KW
    2. plasma membrane Source: UniProtKB-SubCell

    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...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 2525CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini47 – 7024ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini92 – 17887CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini200 – 22829ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini250 – 28536ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini307 – 473167CytoplasmicSequence AnalysisAdd
    BLAST

    Intramembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Intramembranei229 – 24921Sequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei26 – 4621HelicalSequence AnalysisAdd
    BLAST
    Transmembranei71 – 9121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei179 – 19921HelicalSequence AnalysisAdd
    BLAST
    Transmembranei286 – 30621HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the bestrophin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG315004.
    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

    MTVSYTLKVA EARFGGFSGL LLRWRGSIYK LLYKEFLLFG ALYAVLSITY    50
    RLLLTQEQRY VYAQVARYCN RSADLIPLSF VLGFYVTLVV NRWWSQYTSI 100
    PLPDQLMCVI SASVHGVDQR GRLLRRTLIR YANLASVLVL RSVSTRVLKR 150
    FPTMEHVVDA GFMSQEERKK FESLKSDFNK YWVPCVWFTN LAAQARRDGR 200
    IRDDIALCLL LEELNKYRAK CSMLFHYDWI SIPLVYTQVV TIAVYSFFAL 250
    SLVGRQFVEP EAGAAKPQKL LKPGQEPAPA LGDPDMYVPL TTLLQFFFYA 300
    GWLKVAEQII NPFGEDDDDF ETNQLIDRNL QVSLLSVDEM YQNLPPAEKD 350
    QYWDEDQPQP PYTVATAAES LRPSFLGSTF NLRMSDDPEQ SLQVEASPGS 400
    GRPAPAAQTP LLGRFLGVGA PSPAISLRNF GRVRGTPRPP HLLRFRAEEG 450
    GDPEAAARIE EESAESGDEA LEP 473
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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.

    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

    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: October 1, 2014
    This is version 98 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