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Q9HCE9

- ANO8_HUMAN

UniProt

Q9HCE9 - ANO8_HUMAN

Protein

Anoctamin-8

Gene

ANO8

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 90 (01 Oct 2014)
      Sequence version 3 (05 Sep 2006)
      Previous versions | rss
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    Functioni

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

    GO - Molecular functioni

    1. intracellular calcium activated chloride channel activity Source: UniProt

    GO - Biological processi

    1. chloride transmembrane transport Source: GOC
    2. chloride transport Source: UniProt
    3. ion transmembrane transport Source: Reactome
    4. transmembrane transport Source: Reactome

    Enzyme and pathway databases

    ReactomeiREACT_160189. Stimuli-sensing channels.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Anoctamin-8
    Alternative name(s):
    Transmembrane protein 16H
    Gene namesi
    Name:ANO8
    Synonyms:KIAA1623, TMEM16H
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:29329. ANO8.

    Subcellular locationi

    Cell membrane 2 Publications; Multi-pass membrane protein 2 Publications
    Note: Shows predominantly an intracellular localization with a weak expression in the cell membrane.

    GO - Cellular componenti

    1. integral component of membrane Source: UniProtKB-KW
    2. intracellular Source: Ensembl
    3. plasma membrane Source: UniProt

    Keywords - Cellular componenti

    Cell membrane, Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA164715790.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Initiator methioninei1 – 11Removed1 Publication
    Chaini2 – 12321231Anoctamin-8PRO_0000249003Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei2 – 21N-acetylalanine1 Publication

    Keywords - PTMi

    Acetylation

    Proteomic databases

    MaxQBiQ9HCE9.
    PaxDbiQ9HCE9.
    PRIDEiQ9HCE9.

    PTM databases

    PhosphoSiteiQ9HCE9.

    Expressioni

    Tissue specificityi

    Expressed in embryonic stem cells, fetal brain and neural tissues.1 Publication

    Gene expression databases

    ArrayExpressiQ9HCE9.
    BgeeiQ9HCE9.
    CleanExiHS_ANO8.
    GenevestigatoriQ9HCE9.

    Organism-specific databases

    HPAiHPA049206.

    Interactioni

    Protein-protein interaction databases

    IntActiQ9HCE9. 1 interaction.
    STRINGi9606.ENSP00000159087.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9HCE9.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini2 – 244243ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini266 – 28116CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini303 – 35654ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini378 – 40023CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini422 – 43716ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini459 – 750292CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini772 – 80736ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini829 – 84113CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini863 – 1232370ExtracellularSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei245 – 26521HelicalSequence AnalysisAdd
    BLAST
    Transmembranei282 – 30221HelicalSequence AnalysisAdd
    BLAST
    Transmembranei357 – 37721HelicalSequence AnalysisAdd
    BLAST
    Transmembranei401 – 42121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei438 – 45821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei751 – 77121HelicalSequence AnalysisAdd
    BLAST
    Transmembranei808 – 82821HelicalSequence AnalysisAdd
    BLAST
    Transmembranei842 – 86221HelicalSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi353 – 518166Leu-richAdd
    BLAST
    Compositional biasi533 – 58048Gly-richAdd
    BLAST
    Compositional biasi554 – 673120Glu-richAdd
    BLAST
    Compositional biasi1130 – 122293Pro-richAdd
    BLAST

    Sequence similaritiesi

    Belongs to the anoctamin family.Curated

    Keywords - Domaini

    Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG300207.
    HOGENOMiHOG000033952.
    HOVERGENiHBG100443.
    InParanoidiQ9HCE9.
    OMAiACVFLLM.
    PhylomeDBiQ9HCE9.
    TreeFamiTF314265.

    Family and domain databases

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

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q9HCE9-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAEAASGAGG TSLEGERGKR PPPEGEPAAP ASGVLDKLFG KRLLQAGRYL     50
    VSHKAWMKTV PTENCDVLMT FPDTTDDHTL LWLLNHIRVG IPELIVQVRH 100
    HRHTRAYAFF VTATYESLLR GADELGLRKA VKAEFGGGTR GFSCEEDFIY 150
    ENVESELRFF TSQERQSIIR FWLQNLRAKQ GEALHNVRFL EDQPIIPELA 200
    ARGIIQQVFP VHEQRILNRL MKSWVQAVCE NQPLDDICDY FGVKIAMYFA 250
    WLGFYTSAMV YPAVFGSVLY TFTEADQTSR DVSCVVFALF NVIWSTLFLE 300
    EWKRRGAELA YKWGTLDSPG EAVEEPRPQF RGVRRISPIT RAEEFYYPPW 350
    KRLLFQLLVS LPLCLACLVC VFLLMLGCFQ LQELVLSVKG LPRLARFLPK 400
    VMLALLVSVS AEGYKKLAIW LNDMENYRLE SAYEKHLIIK VVLFQFVNSY 450
    LSLFYIGFYL KDMERLKEML ATLLITRQFL QNVREVLQPH LYRRLGRGEL 500
    GLRAVWELAR ALLGLLSLRR PAPRRLEPQA DEGGGGGSGG GGRRCLSGGC 550
    GAPEEEEEAA LVERRRAGEG GEEGDGPPGG KEEDEDDEEE EDEEEEEDEE 600
    EGEEGGLLDC GLRLKKVSFA ERGAGRRRPG PSPEALLEEG SPTMVEKGLE 650
    PGVFTLAEED DEAEGAPGSP EREPPAILFR RAGGEGRDQG PDGGPDPEPG 700
    SNSDSTRRQR RQNRSSWIDP PEEEHSPQLT QAELESCMKK YEDTFQDYQE 750
    MFVQFGYVVL FSSAFPLAAL CALVNNLIEI RSDAFKLCTG LQRPFGQRVE 800
    SIGQWQKVME AMGVLAIVVN CYLIGQCGQL QRLFPWLSPE AAIVSVVVLE 850
    HFALLLKYLI HVAIPDIPGW VAEEMAKLEY QRREAFKRHE RQAQHRYQQQ 900
    QRRRREEEER QRHAEHHARR EHDSGGREEA RAEGSGLDPA TSSEKASAKA 950
    KGSTAGGHGP ERPKRPGSLL APNNVMKLKQ IIPLQGKFLS SGATSSLAAA 1000
    GAGATTRPPP AQSPTGSDTR LPAFLSFKFL KSPETRRDSE RSHSPPKAFH 1050
    AGKLFPFGGT RAEPGSNGAG GQARPDGTPS SGSSRVQRSG PVDEALAEEL 1100
    EAPRPEEEGS GTALAPVGAP ALRTRRSRSP APPPPMPLPR PPTPPAGCWQ 1150
    WDGPWGCGGE GAAPRQALAA AECPPCAMAG PPPAPQPLPG DASFYSLPPP 1200
    PLPPTSDPLE TPAPSPSPSP SPQAVCWPSG WH 1232
    Length:1,232
    Mass (Da):136,034
    Last modified:September 5, 2006 - v3
    Checksum:i1802BC3544A9234C
    GO
    Isoform 2 (identifier: Q9HCE9-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1112-1114: TAL → HKL
         1115-1232: Missing.

    Show »
    Length:1,114
    Mass (Da):124,151
    Checksum:i7BA90E3E817E4110
    GO

    Sequence cautioni

    The sequence BAB13449.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1112 – 11143TAL → HKL in isoform 2. CuratedVSP_020351
    Alternative sequencei1115 – 1232118Missing in isoform 2. CuratedVSP_020352Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB046843 mRNA. Translation: BAB13449.2. Different initiation.
    AC010463 Genomic DNA. No translation available.
    CH471106 Genomic DNA. Translation: EAW84595.1.
    CCDSiCCDS32949.1. [Q9HCE9-1]
    RefSeqiNP_066010.1. NM_020959.2. [Q9HCE9-1]
    UniGeneiHs.590990.

    Genome annotation databases

    EnsembliENST00000159087; ENSP00000159087; ENSG00000074855. [Q9HCE9-1]
    GeneIDi57719.
    KEGGihsa:57719.
    UCSCiuc002ngf.2. human. [Q9HCE9-1]

    Polymorphism databases

    DMDMi114152287.

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AB046843 mRNA. Translation: BAB13449.2 . Different initiation.
    AC010463 Genomic DNA. No translation available.
    CH471106 Genomic DNA. Translation: EAW84595.1 .
    CCDSi CCDS32949.1. [Q9HCE9-1 ]
    RefSeqi NP_066010.1. NM_020959.2. [Q9HCE9-1 ]
    UniGenei Hs.590990.

    3D structure databases

    ProteinModelPortali Q9HCE9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    IntActi Q9HCE9. 1 interaction.
    STRINGi 9606.ENSP00000159087.

    PTM databases

    PhosphoSitei Q9HCE9.

    Polymorphism databases

    DMDMi 114152287.

    Proteomic databases

    MaxQBi Q9HCE9.
    PaxDbi Q9HCE9.
    PRIDEi Q9HCE9.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000159087 ; ENSP00000159087 ; ENSG00000074855 . [Q9HCE9-1 ]
    GeneIDi 57719.
    KEGGi hsa:57719.
    UCSCi uc002ngf.2. human. [Q9HCE9-1 ]

    Organism-specific databases

    CTDi 57719.
    GeneCardsi GC19M017434.
    HGNCi HGNC:29329. ANO8.
    HPAi HPA049206.
    MIMi 610216. gene.
    neXtProti NX_Q9HCE9.
    PharmGKBi PA164715790.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG300207.
    HOGENOMi HOG000033952.
    HOVERGENi HBG100443.
    InParanoidi Q9HCE9.
    OMAi ACVFLLM.
    PhylomeDBi Q9HCE9.
    TreeFami TF314265.

    Enzyme and pathway databases

    Reactomei REACT_160189. Stimuli-sensing channels.

    Miscellaneous databases

    GenomeRNAii 57719.
    NextBioi 64654.
    PROi Q9HCE9.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9HCE9.
    Bgeei Q9HCE9.
    CleanExi HS_ANO8.
    Genevestigatori Q9HCE9.

    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. "Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
      Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
      DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    2. "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
      Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
      DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: SEQUENCE REVISION.
    3. "The DNA sequence and biology of human chromosome 19."
      Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
      , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
      Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Identification and characterization of TMEM16H gene in silico."
      Katoh M., Katoh M.
      Int. J. Mol. Med. 15:353-358(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), TISSUE SPECIFICITY.
    6. Cited for: ABSENCE OF CALCIUM-ACTIVATED CHLORIDE CHANNEL ACTIVITY, SUBCELLULAR LOCATION.
    7. "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.
    8. "CFTR and TMEM16A are separate but functionally related Cl-channels."
      Ousingsawat J., Kongsuphol P., Schreiber R., Kunzelmann K.
      Cell. Physiol. Biochem. 28:715-724(2011) [PubMed] [Europe PMC] [Abstract]
      Cited for: ABSENCE OF CALCIUM-ACTIVATED CHLORIDE CHANNEL ACTIVITY.
    9. Cited for: REVIEW.
    10. "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.
    11. "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.
    12. "Anoctamins are a family of Ca2+ activated Cl- channels."
      Tian Y., Schreiber R., Kunzelmann K.
      J. Cell Sci. 125:4991-4998(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION.
    13. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS], CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS].

    Entry informationi

    Entry nameiANO8_HUMAN
    AccessioniPrimary (citable) accession number: Q9HCE9
    Secondary accession number(s): A6NIJ0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 5, 2006
    Last sequence update: September 5, 2006
    Last modified: October 1, 2014
    This is version 90 of the entry and version 3 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 19
      Human chromosome 19: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3