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Q9HCE9

- ANO8_HUMAN

UniProt

Q9HCE9 - ANO8_HUMAN

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Protein

Anoctamin-8

Gene

ANO8

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

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
Complete GO annotation...

Enzyme and pathway databases

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

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.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini2 – 244243ExtracellularSequence AnalysisAdd
BLAST
Transmembranei245 – 26521HelicalSequence AnalysisAdd
BLAST
Topological domaini266 – 28116CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei282 – 30221HelicalSequence AnalysisAdd
BLAST
Topological domaini303 – 35654ExtracellularSequence AnalysisAdd
BLAST
Transmembranei357 – 37721HelicalSequence AnalysisAdd
BLAST
Topological domaini378 – 40023CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei401 – 42121HelicalSequence AnalysisAdd
BLAST
Topological domaini422 – 43716ExtracellularSequence AnalysisAdd
BLAST
Transmembranei438 – 45821HelicalSequence AnalysisAdd
BLAST
Topological domaini459 – 750292CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei751 – 77121HelicalSequence AnalysisAdd
BLAST
Topological domaini772 – 80736ExtracellularSequence AnalysisAdd
BLAST
Transmembranei808 – 82821HelicalSequence AnalysisAdd
BLAST
Topological domaini829 – 84113CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei842 – 86221HelicalSequence AnalysisAdd
BLAST
Topological domaini863 – 1232370ExtracellularSequence AnalysisAdd
BLAST

GO - Cellular componenti

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

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

BgeeiQ9HCE9.
CleanExiHS_ANO8.
ExpressionAtlasiQ9HCE9. baseline and differential.
GenevestigatoriQ9HCE9.

Organism-specific databases

HPAiHPA049206.

Interactioni

Protein-protein interaction databases

IntActiQ9HCE9. 1 interaction.
STRINGi9606.ENSP00000159087.

Structurei

3D structure databases

ProteinModelPortaliQ9HCE9.
ModBaseiSearch...
MobiDBiSearch...

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.
GeneTreeiENSGT00760000119015.
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

        10         20         30         40         50
MAEAASGAGG TSLEGERGKR PPPEGEPAAP ASGVLDKLFG KRLLQAGRYL
60 70 80 90 100
VSHKAWMKTV PTENCDVLMT FPDTTDDHTL LWLLNHIRVG IPELIVQVRH
110 120 130 140 150
HRHTRAYAFF VTATYESLLR GADELGLRKA VKAEFGGGTR GFSCEEDFIY
160 170 180 190 200
ENVESELRFF TSQERQSIIR FWLQNLRAKQ GEALHNVRFL EDQPIIPELA
210 220 230 240 250
ARGIIQQVFP VHEQRILNRL MKSWVQAVCE NQPLDDICDY FGVKIAMYFA
260 270 280 290 300
WLGFYTSAMV YPAVFGSVLY TFTEADQTSR DVSCVVFALF NVIWSTLFLE
310 320 330 340 350
EWKRRGAELA YKWGTLDSPG EAVEEPRPQF RGVRRISPIT RAEEFYYPPW
360 370 380 390 400
KRLLFQLLVS LPLCLACLVC VFLLMLGCFQ LQELVLSVKG LPRLARFLPK
410 420 430 440 450
VMLALLVSVS AEGYKKLAIW LNDMENYRLE SAYEKHLIIK VVLFQFVNSY
460 470 480 490 500
LSLFYIGFYL KDMERLKEML ATLLITRQFL QNVREVLQPH LYRRLGRGEL
510 520 530 540 550
GLRAVWELAR ALLGLLSLRR PAPRRLEPQA DEGGGGGSGG GGRRCLSGGC
560 570 580 590 600
GAPEEEEEAA LVERRRAGEG GEEGDGPPGG KEEDEDDEEE EDEEEEEDEE
610 620 630 640 650
EGEEGGLLDC GLRLKKVSFA ERGAGRRRPG PSPEALLEEG SPTMVEKGLE
660 670 680 690 700
PGVFTLAEED DEAEGAPGSP EREPPAILFR RAGGEGRDQG PDGGPDPEPG
710 720 730 740 750
SNSDSTRRQR RQNRSSWIDP PEEEHSPQLT QAELESCMKK YEDTFQDYQE
760 770 780 790 800
MFVQFGYVVL FSSAFPLAAL CALVNNLIEI RSDAFKLCTG LQRPFGQRVE
810 820 830 840 850
SIGQWQKVME AMGVLAIVVN CYLIGQCGQL QRLFPWLSPE AAIVSVVVLE
860 870 880 890 900
HFALLLKYLI HVAIPDIPGW VAEEMAKLEY QRREAFKRHE RQAQHRYQQQ
910 920 930 940 950
QRRRREEEER QRHAEHHARR EHDSGGREEA RAEGSGLDPA TSSEKASAKA
960 970 980 990 1000
KGSTAGGHGP ERPKRPGSLL APNNVMKLKQ IIPLQGKFLS SGATSSLAAA
1010 1020 1030 1040 1050
GAGATTRPPP AQSPTGSDTR LPAFLSFKFL KSPETRRDSE RSHSPPKAFH
1060 1070 1080 1090 1100
AGKLFPFGGT RAEPGSNGAG GQARPDGTPS SGSSRVQRSG PVDEALAEEL
1110 1120 1130 1140 1150
EAPRPEEEGS GTALAPVGAP ALRTRRSRSP APPPPMPLPR PPTPPAGCWQ
1160 1170 1180 1190 1200
WDGPWGCGGE GAAPRQALAA AECPPCAMAG PPPAPQPLPG DASFYSLPPP
1210 1220 1230
PLPPTSDPLE TPAPSPSPSP SPQAVCWPSG WH
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.Curated

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:
EMBLi
GenBanki
DDBJi
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:
EMBLi
GenBanki
DDBJi
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.
GeneTreei ENSGT00760000119015.
HOGENOMi HOG000033952.
HOVERGENi HBG100443.
InParanoidi Q9HCE9.
OMAi ACVFLLM.
PhylomeDBi Q9HCE9.
TreeFami TF314265.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSi ANO8. human.
GenomeRNAii 57719.
NextBioi 64654.
PROi Q9HCE9.
SOURCEi Search...

Gene expression databases

Bgeei Q9HCE9.
CleanExi HS_ANO8.
ExpressionAtlasi Q9HCE9. baseline and differential.
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

« Hide 'large scale' publications
  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: November 26, 2014
This is version 92 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