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Q9BYT9 (ANO3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 90. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Anoctamin-3
Alternative name(s):
Transmembrane protein 16C
Gene names
Name:ANO3
Synonyms:C11orf25, TMEM16C
ORF Names:GENX-3947
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length981 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Subcellular location

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

Tissue specificity

Highly expressed in the forebrain striatum. Ref.5

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

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.

Sequence similarities

Belongs to the anoctamin family.

Ontologies

Keywords
   Cellular componentCell membrane
Membrane
   Coding sequence diversityPolymorphism
   DiseaseDisease mutation
Dystonia
   DomainTransmembrane
Transmembrane helix
   PTMGlycoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_procession transmembrane transport

Traceable author statement. Source: Reactome

   Cellular_componentintegral component of membrane

Inferred from electronic annotation. Source: UniProtKB-KW

plasma membrane

Traceable author statement. Source: Reactome

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 981981Anoctamin-3
PRO_0000072565

Regions

Topological domain1 – 403403Cytoplasmic Potential
Transmembrane404 – 42421Helical; Potential
Topological domain425 – 46945Extracellular Potential
Transmembrane470 – 49021Helical; Potential
Topological domain491 – 55060Cytoplasmic Potential
Transmembrane551 – 57121Helical; Potential
Topological domain572 – 59221Extracellular Potential
Transmembrane593 – 61321Helical; Potential
Topological domain614 – 64027Cytoplasmic Potential
Transmembrane641 – 66121Helical; Potential
Topological domain662 – 761100Extracellular Potential
Transmembrane762 – 78221Helical; Potential
Topological domain783 – 81028Cytoplasmic Potential
Transmembrane811 – 83121Helical; Potential
Topological domain832 – 91483Extracellular Potential
Transmembrane915 – 93521Helical; Potential
Topological domain936 – 98146Cytoplasmic Potential

Amino acid modifications

Glycosylation4251N-linked (GlcNAc...) Potential
Glycosylation4481N-linked (GlcNAc...) Potential
Glycosylation4551N-linked (GlcNAc...) Potential
Glycosylation8661N-linked (GlcNAc...) Potential

Natural variations

Natural variant4901W → C in DYT24. Ref.5
VAR_069732
Natural variant4941R → W in DYT24. Ref.5
VAR_069733
Natural variant6851S → G in DYT24. Ref.5
VAR_069734
Natural variant7811L → V.
Corresponds to variant rs11825056 [ dbSNP | Ensembl ].
VAR_057287
Natural variant8621K → N in DYT24. Ref.5
VAR_069735

Experimental info

Sequence conflict1621K → R in CAC32454. Ref.1
Sequence conflict1761Q → P in CAC32454. Ref.1
Sequence conflict2561N → D in CAC32454. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q9BYT9 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: FC7449D2D4810290

FASTA981114,657
        10         20         30         40         50         60 
MVHHSGSIQS FKQQKGMNIS KSEITKETSL KPSRRSLPCL AQSYAYSKSL SQSTSLFQST 

        70         80         90        100        110        120 
ESESQAPTSI TLISTDKAEQ VNTEENKNDS VLRCSFADLS DFCLALGKDK DYTDESEHAT 

       130        140        150        160        170        180 
YDRSRLINDF VIKDKSEFKT KLSKNDMNYI ASSGPLFKDG KKRIDYILVY RKTNIQYDKR 

       190        200        210        220        230        240 
NTFEKNLRAE GLMLEKEPAI ASPDIMFIKI HIPWDTLCKY AERLNIRMPF RKKCYYTDGR 

       250        260        270        280        290        300 
SKSMGRMQTY FRRIKNWMAQ NPMVLDKSAF PDLEESDCYT GPFSRARIHH FIINNKDTFF 

       310        320        330        340        350        360 
SNATRSRIVY HMLERTKYEN GISKVGIRKL INNGSYIAAF PPHEGAYKSS QPIKTHGPQN 

       370        380        390        400        410        420 
NRHLLYERWA RWGMWYKHQP LDLIRLYFGE KIGLYFAWLG WYTGMLIPAA IVGLCVFFYG 

       430        440        450        460        470        480 
LFTMNNSQVS QEICKATEVF MCPLCDKNCS LQRLNDSCIY AKVTYLFDNG GTVFFAIFMA 

       490        500        510        520        530        540 
IWATVFLEFW KRRRSILTYT WDLIEWEEEE ETLRPQFEAK YYKMEIVNPI TGKPEPHQPS 

       550        560        570        580        590        600 
SDKVTRLLVS VSGIFFMISL VITAVFGVVV YRLVVMEQFA SFKWNFIKQY WQFATSAAAV 

       610        620        630        640        650        660 
CINFIIIMLL NLAYEKIAYL LTNLEYPRTE SEWENSFALK MFLFQFVNLN SSIFYIAFFL 

       670        680        690        700        710        720 
GRFVGHPGKY NKLFDRWRLE ECHPSGCLID LCLQMGVIMF LKQIWNNFME LGYPLIQNWW 

       730        740        750        760        770        780 
SRHKIKRGIH DASIPQWEND WNLQPMNLHG LMDEYLEMVL QFGFTTIFVA AFPLAPLLAL 

       790        800        810        820        830        840 
LNNIIEIRLD AYKFVTQWRR PLPARATDIG IWLGILEGIG ILAVITNAFV IAITSDYIPR 

       850        860        870        880        890        900 
FVYEYKYGPC ANHVEPSENC LKGYVNNSLS FFDLSELGMG KSGYCRYRDY RGPPWSSKPY 

       910        920        930        940        950        960 
EFTLQYWHIL AARLAFIIVF EHLVFGIKSF IAYLIPDVPK GLHDRIRREK YLVQEMMYEA 

       970        980 
ELEHLQQQRR KSGQPVHHEW P 

« Hide

References

« Hide 'large scale' references
[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]"Human chromosome 11 DNA sequence and analysis including novel gene identification."
Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., Sakaki Y.
Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
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]"Anoctamins."
Kunzelmann K., Tian Y., Martins J.R., Faria D., Kongsuphol P., Ousingsawat J., Thevenod F., Roussa E., Rock J., Schreiber R.
Pflugers Arch. 462:195-208(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW.
[5]"Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis."
Charlesworth G., Plagnol V., Holmstroem K.M., Bras J., Sheerin U.M., Preza E., Rubio-Agusti I., Ryten M., Schneider S.A., Stamelou M., Trabzuni D., Abramov A.Y., Bhatia K.P., Wood N.W.
Am. J. Hum. Genet. 91:1041-1050(2012) [PubMed] [Europe PMC] [Abstract]
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.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_113606.2. NM_031418.2.
UniGeneHs.91791.

3D structure databases

ProteinModelPortalQ9BYT9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000256737.

PTM databases

PhosphoSiteQ9BYT9.

Polymorphism databases

DMDM296434396.

Proteomic databases

PaxDbQ9BYT9.
PRIDEQ9BYT9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000256737; ENSP00000256737; ENSG00000134343.
GeneID63982.
KEGGhsa:63982.
UCSCuc001mqt.4. human.

Organism-specific databases

CTD63982.
GeneCardsGC11P026310.
H-InvDBHIX0035914.
HGNCHGNC:14004. ANO3.
HPAHPA041629.
MIM610110. gene.
615034. phenotype.
neXtProtNX_Q9BYT9.
Orphanet93962. Autosomal dominant cervical dystonia.
PharmGKBPA25489.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG320103.
HOGENOMHOG000006509.
HOVERGENHBG069519.
InParanoidQ9BYT9.
OMAEICEANE.
OrthoDBEOG7BS48W.
PhylomeDBQ9BYT9.
TreeFamTF314265.

Enzyme and pathway databases

ReactomeREACT_15518. Transmembrane transport of small molecules.

Gene expression databases

ArrayExpressQ9BYT9.
BgeeQ9BYT9.
CleanExHS_ANO3.
GenevestigatorQ9BYT9.

Family and domain databases

InterProIPR007632. Anoctamin.
[Graphical view]
PANTHERPTHR12308. PTHR12308. 1 hit.
PfamPF04547. Anoctamin. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi63982.
NextBio65800.
PROQ9BYT9.
SOURCESearch...

Entry information

Entry nameANO3_HUMAN
AccessionPrimary (citable) accession number: Q9BYT9
Entry history
Integrated into UniProtKB/Swiss-Prot: January 16, 2004
Last sequence update: May 18, 2010
Last modified: March 19, 2014
This is version 90 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM