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Q9BYT9

- ANO3_HUMAN

UniProt

Q9BYT9 - ANO3_HUMAN

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Protein

Anoctamin-3

Gene

ANO3

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

Functioni

Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide. Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity By similarity. Does not exhibit calcium-activated chloride channel (CaCC) activity.By similarity1 Publication

GO - Molecular functioni

  1. phospholipid scramblase activity Source: Ensembl

GO - Biological processi

  1. calcium activated galactosylceramide scrambling Source: Ensembl
  2. calcium activated phosphatidylcholine scrambling Source: Ensembl
  3. ion transmembrane transport Source: Reactome
  4. transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Lipid transport, Transport

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
Complete GO annotation...

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

BgeeiQ9BYT9.
CleanExiHS_ANO3.
ExpressionAtlasiQ9BYT9. baseline and differential.
GenevestigatoriQ9BYT9.

Organism-specific databases

HPAiHPA041629.

Interactioni

Subunit structurei

Interacts with KCNT1/Slack.By similarity

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.
GeneTreeiENSGT00760000119015.
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]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9BYT9-1) [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
MVHHSGSIQS FKQQKGMNIS KSEITKETSL KPSRRSLPCL AQSYAYSKSL
60 70 80 90 100
SQSTSLFQST ESESQAPTSI TLISTDKAEQ VNTEENKNDS VLRCSFADLS
110 120 130 140 150
DFCLALGKDK DYTDESEHAT YDRSRLINDF VIKDKSEFKT KLSKNDMNYI
160 170 180 190 200
ASSGPLFKDG KKRIDYILVY RKTNIQYDKR NTFEKNLRAE GLMLEKEPAI
210 220 230 240 250
ASPDIMFIKI HIPWDTLCKY AERLNIRMPF RKKCYYTDGR SKSMGRMQTY
260 270 280 290 300
FRRIKNWMAQ NPMVLDKSAF PDLEESDCYT GPFSRARIHH FIINNKDTFF
310 320 330 340 350
SNATRSRIVY HMLERTKYEN GISKVGIRKL INNGSYIAAF PPHEGAYKSS
360 370 380 390 400
QPIKTHGPQN NRHLLYERWA RWGMWYKHQP LDLIRLYFGE KIGLYFAWLG
410 420 430 440 450
WYTGMLIPAA IVGLCVFFYG LFTMNNSQVS QEICKATEVF MCPLCDKNCS
460 470 480 490 500
LQRLNDSCIY AKVTYLFDNG GTVFFAIFMA IWATVFLEFW KRRRSILTYT
510 520 530 540 550
WDLIEWEEEE ETLRPQFEAK YYKMEIVNPI TGKPEPHQPS SDKVTRLLVS
560 570 580 590 600
VSGIFFMISL VITAVFGVVV YRLVVMEQFA SFKWNFIKQY WQFATSAAAV
610 620 630 640 650
CINFIIIMLL NLAYEKIAYL LTNLEYPRTE SEWENSFALK MFLFQFVNLN
660 670 680 690 700
SSIFYIAFFL GRFVGHPGKY NKLFDRWRLE ECHPSGCLID LCLQMGVIMF
710 720 730 740 750
LKQIWNNFME LGYPLIQNWW SRHKIKRGIH DASIPQWEND WNLQPMNLHG
760 770 780 790 800
LMDEYLEMVL QFGFTTIFVA AFPLAPLLAL LNNIIEIRLD AYKFVTQWRR
810 820 830 840 850
PLPARATDIG IWLGILEGIG ILAVITNAFV IAITSDYIPR FVYEYKYGPC
860 870 880 890 900
ANHVEPSENC LKGYVNNSLS FFDLSELGMG KSGYCRYRDY RGPPWSSKPY
910 920 930 940 950
EFTLQYWHIL AARLAFIIVF EHLVFGIKSF IAYLIPDVPK GLHDRIRREK
960 970 980
YLVQEMMYEA ELEHLQQQRR KSGQPVHHEW P
Length:981
Mass (Da):114,657
Last modified:May 18, 2010 - v2
Checksum:iFC7449D2D4810290
GO
Isoform 2 (identifier: Q9BYT9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-146: Missing.

Note: No experimental confirmation available

Show »
Length:835
Mass (Da):98,284
Checksum:i213C451D9B6FA8CD
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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 146146Missing in isoform 2. 1 PublicationVSP_056893Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ300461 mRNA. Translation: CAC32454.1.
AK295816 mRNA. Translation: BAH12191.1.
AC021698 Genomic DNA. No translation available.
AC036114 Genomic DNA. No translation available.
AC079064 Genomic DNA. No translation available.
AC083755 Genomic DNA. No translation available.
AC099687 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

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ300461 mRNA. Translation: CAC32454.1 .
AK295816 mRNA. Translation: BAH12191.1 .
AC021698 Genomic DNA. No translation available.
AC036114 Genomic DNA. No translation available.
AC079064 Genomic DNA. No translation available.
AC083755 Genomic DNA. No translation available.
AC099687 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.
GeneTreei ENSGT00760000119015.
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

Bgeei Q9BYT9.
CleanExi HS_ANO3.
ExpressionAtlasi Q9BYT9. baseline and differential.
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

« Hide 'large scale' publications
  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] (ISOFORM 1).
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Hippocampus.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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.
  5. Cited for: REVIEW.
  6. Cited for: TISSUE SPECIFICITY, VARIANTS DYT24 CYS-490; TRP-494; GLY-685 AND ASN-862.
  7. "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.
  8. "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
Secondary accession number(s): B7Z3F5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 95 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