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Q9BYT9

- ANO3_HUMAN

UniProt

Q9BYT9 - ANO3_HUMAN

Protein

Anoctamin-3

Gene

ANO3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 94 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    Functioni

    Does not exhibit calcium-activated chloride channel (CaCC) activity.

    GO - Biological processi

    1. ion transmembrane transport Source: Reactome
    2. transmembrane transport Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_160189. Stimuli-sensing channels.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Anoctamin-3
    Alternative name(s):
    Transmembrane protein 16C
    Gene namesi
    Name:ANO3
    Synonyms:C11orf25, TMEM16C
    ORF Names:GENX-3947
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:14004. ANO3.

    Subcellular locationi

    Cell membrane Curated; Multi-pass membrane protein Curated
    Note: Shows an intracellular localization.By similarity

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. plasma membrane Source: Reactome

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Dystonia 24 (DYT24) [MIM:615034]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT24 is an autosomal dominant focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti490 – 4901W → C in DYT24. 1 Publication
    VAR_069732
    Natural varianti494 – 4941R → W in DYT24. 1 Publication
    VAR_069733
    Natural varianti685 – 6851S → G in DYT24. 1 Publication
    VAR_069734
    Natural varianti862 – 8621K → N in DYT24. 1 Publication
    VAR_069735

    Keywords - Diseasei

    Disease mutation, Dystonia

    Organism-specific databases

    MIMi615034. phenotype.
    Orphaneti93962. Autosomal dominant cervical dystonia.
    PharmGKBiPA25489.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 981981Anoctamin-3PRO_0000072565Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi425 – 4251N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi448 – 4481N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi455 – 4551N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi866 – 8661N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein

    Proteomic databases

    PaxDbiQ9BYT9.
    PRIDEiQ9BYT9.

    PTM databases

    PhosphoSiteiQ9BYT9.

    Expressioni

    Tissue specificityi

    Highly expressed in the forebrain striatum.1 Publication

    Gene expression databases

    ArrayExpressiQ9BYT9.
    BgeeiQ9BYT9.
    CleanExiHS_ANO3.
    GenevestigatoriQ9BYT9.

    Organism-specific databases

    HPAiHPA041629.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000256737.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9BYT9.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 403403CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini425 – 46945ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini491 – 55060CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini572 – 59221ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini614 – 64027CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini662 – 761100ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini783 – 81028CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini832 – 91483ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini936 – 98146CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei404 – 42421HelicalSequence AnalysisAdd
    BLAST
    Transmembranei470 – 49021HelicalSequence AnalysisAdd
    BLAST
    Transmembranei551 – 57121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei593 – 61321HelicalSequence AnalysisAdd
    BLAST
    Transmembranei641 – 66121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei762 – 78221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei811 – 83121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei915 – 93521HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the anoctamin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG320103.
    HOGENOMiHOG000006509.
    HOVERGENiHBG069519.
    InParanoidiQ9BYT9.
    OMAiEICEANE.
    OrthoDBiEOG7BS48W.
    PhylomeDBiQ9BYT9.
    TreeFamiTF314265.

    Family and domain databases

    InterProiIPR007632. Anoctamin.
    [Graphical view]
    PANTHERiPTHR12308. PTHR12308. 1 hit.
    PfamiPF04547. Anoctamin. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9BYT9-1 [UniParc]FASTAAdd to Basket

    « Hide

    MVHHSGSIQS FKQQKGMNIS KSEITKETSL KPSRRSLPCL AQSYAYSKSL    50
    SQSTSLFQST ESESQAPTSI TLISTDKAEQ VNTEENKNDS VLRCSFADLS 100
    DFCLALGKDK DYTDESEHAT YDRSRLINDF VIKDKSEFKT KLSKNDMNYI 150
    ASSGPLFKDG KKRIDYILVY RKTNIQYDKR NTFEKNLRAE GLMLEKEPAI 200
    ASPDIMFIKI HIPWDTLCKY AERLNIRMPF RKKCYYTDGR SKSMGRMQTY 250
    FRRIKNWMAQ NPMVLDKSAF PDLEESDCYT GPFSRARIHH FIINNKDTFF 300
    SNATRSRIVY HMLERTKYEN GISKVGIRKL INNGSYIAAF PPHEGAYKSS 350
    QPIKTHGPQN NRHLLYERWA RWGMWYKHQP LDLIRLYFGE KIGLYFAWLG 400
    WYTGMLIPAA IVGLCVFFYG LFTMNNSQVS QEICKATEVF MCPLCDKNCS 450
    LQRLNDSCIY AKVTYLFDNG GTVFFAIFMA IWATVFLEFW KRRRSILTYT 500
    WDLIEWEEEE ETLRPQFEAK YYKMEIVNPI TGKPEPHQPS SDKVTRLLVS 550
    VSGIFFMISL VITAVFGVVV YRLVVMEQFA SFKWNFIKQY WQFATSAAAV 600
    CINFIIIMLL NLAYEKIAYL LTNLEYPRTE SEWENSFALK MFLFQFVNLN 650
    SSIFYIAFFL GRFVGHPGKY NKLFDRWRLE ECHPSGCLID LCLQMGVIMF 700
    LKQIWNNFME LGYPLIQNWW SRHKIKRGIH DASIPQWEND WNLQPMNLHG 750
    LMDEYLEMVL QFGFTTIFVA AFPLAPLLAL LNNIIEIRLD AYKFVTQWRR 800
    PLPARATDIG IWLGILEGIG ILAVITNAFV IAITSDYIPR FVYEYKYGPC 850
    ANHVEPSENC LKGYVNNSLS FFDLSELGMG KSGYCRYRDY RGPPWSSKPY 900
    EFTLQYWHIL AARLAFIIVF EHLVFGIKSF IAYLIPDVPK GLHDRIRREK 950
    YLVQEMMYEA ELEHLQQQRR KSGQPVHHEW P 981
    Length:981
    Mass (Da):114,657
    Last modified:May 18, 2010 - v2
    Checksum:iFC7449D2D4810290
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti162 – 1621K → R in CAC32454. 1 PublicationCurated
    Sequence conflicti176 – 1761Q → P in CAC32454. 1 PublicationCurated
    Sequence conflicti256 – 2561N → D in CAC32454. 1 PublicationCurated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti490 – 4901W → C in DYT24. 1 Publication
    VAR_069732
    Natural varianti494 – 4941R → W in DYT24. 1 Publication
    VAR_069733
    Natural varianti685 – 6851S → G in DYT24. 1 Publication
    VAR_069734
    Natural varianti781 – 7811L → V.
    Corresponds to variant rs11825056 [ dbSNP | Ensembl ].
    VAR_057287
    Natural varianti862 – 8621K → N in DYT24. 1 Publication
    VAR_069735

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ300461 mRNA. Translation: CAC32454.1.
    AC021698 Genomic DNA. No translation available.
    AC036114 Genomic DNA. No translation available.
    AC079064 Genomic DNA. No translation available.
    AC083755 Genomic DNA. No translation available.
    CCDSiCCDS31447.1.
    RefSeqiNP_113606.2. NM_031418.2.
    UniGeneiHs.91791.

    Genome annotation databases

    EnsembliENST00000256737; ENSP00000256737; ENSG00000134343.
    GeneIDi63982.
    KEGGihsa:63982.
    UCSCiuc001mqt.4. human.

    Polymorphism databases

    DMDMi296434396.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ300461 mRNA. Translation: CAC32454.1 .
    AC021698 Genomic DNA. No translation available.
    AC036114 Genomic DNA. No translation available.
    AC079064 Genomic DNA. No translation available.
    AC083755 Genomic DNA. No translation available.
    CCDSi CCDS31447.1.
    RefSeqi NP_113606.2. NM_031418.2.
    UniGenei Hs.91791.

    3D structure databases

    ProteinModelPortali Q9BYT9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000256737.

    PTM databases

    PhosphoSitei Q9BYT9.

    Polymorphism databases

    DMDMi 296434396.

    Proteomic databases

    PaxDbi Q9BYT9.
    PRIDEi Q9BYT9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000256737 ; ENSP00000256737 ; ENSG00000134343 .
    GeneIDi 63982.
    KEGGi hsa:63982.
    UCSCi uc001mqt.4. human.

    Organism-specific databases

    CTDi 63982.
    GeneCardsi GC11P026310.
    H-InvDB HIX0035914.
    HGNCi HGNC:14004. ANO3.
    HPAi HPA041629.
    MIMi 610110. gene.
    615034. phenotype.
    neXtProti NX_Q9BYT9.
    Orphaneti 93962. Autosomal dominant cervical dystonia.
    PharmGKBi PA25489.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG320103.
    HOGENOMi HOG000006509.
    HOVERGENi HBG069519.
    InParanoidi Q9BYT9.
    OMAi EICEANE.
    OrthoDBi EOG7BS48W.
    PhylomeDBi Q9BYT9.
    TreeFami TF314265.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    GenomeRNAii 63982.
    NextBioi 65800.
    PROi Q9BYT9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9BYT9.
    Bgeei Q9BYT9.
    CleanExi HS_ANO3.
    Genevestigatori Q9BYT9.

    Family and domain databases

    InterProi IPR007632. Anoctamin.
    [Graphical view ]
    PANTHERi PTHR12308. PTHR12308. 1 hit.
    Pfami PF04547. Anoctamin. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Predominant brain expression and full-length characterization of a novel human 6.6-Kb transcript mapping at 11p14 in the telomeric part of WAGR locus."
      Rosier M.F., Toselli E., Segurens-Soury B., Auffray C., Devignes M.D.
      Submitted (NOV-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. "Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels?"
      Duran C., Hartzell H.C.
      Acta Pharmacol. Sin. 32:685-692(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    4. Cited for: REVIEW.
    5. Cited for: TISSUE SPECIFICITY, VARIANTS DYT24 CYS-490; TRP-494; GLY-685 AND ASN-862.
    6. "The anoctamin (TMEM16) gene family: calcium-activated chloride channels come of age."
      Winpenny J.P., Gray M.A.
      Exp. Physiol. 97:175-176(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW.
    7. "The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels."
      Scudieri P., Sondo E., Ferrera L., Galietta L.J.
      Exp. Physiol. 97:177-183(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW, ABSENCE OF CALCIUM-ACTIVATED CHLORIDE CHANNEL ACTIVITY.

    Entry informationi

    Entry nameiANO3_HUMAN
    AccessioniPrimary (citable) accession number: Q9BYT9
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: January 16, 2004
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 94 of the entry and version 2 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

    Miscellaneous

    The term 'anoctamin' was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology.

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 11
      Human chromosome 11: 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