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Q9BYT9

- ANO3_HUMAN

UniProt

Q9BYT9 - ANO3_HUMAN

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Protein
Anoctamin-3
Gene
ANO3, C11orf25, TMEM16C, GENX-3947
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

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

GO - Biological processi

  1. ion transmembrane transport Source: Reactome
  2. transmembrane transport Source: Reactome
Complete GO annotation...

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; Multi-pass membrane protein Reviewed prediction
Note: Shows an intracellular localization By similarity.

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 403403Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei404 – 42421Helical; Reviewed prediction
Add
BLAST
Topological domaini425 – 46945Extracellular Reviewed prediction
Add
BLAST
Transmembranei470 – 49021Helical; Reviewed prediction
Add
BLAST
Topological domaini491 – 55060Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei551 – 57121Helical; Reviewed prediction
Add
BLAST
Topological domaini572 – 59221Extracellular Reviewed prediction
Add
BLAST
Transmembranei593 – 61321Helical; Reviewed prediction
Add
BLAST
Topological domaini614 – 64027Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei641 – 66121Helical; Reviewed prediction
Add
BLAST
Topological domaini662 – 761100Extracellular Reviewed prediction
Add
BLAST
Transmembranei762 – 78221Helical; Reviewed prediction
Add
BLAST
Topological domaini783 – 81028Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei811 – 83121Helical; Reviewed prediction
Add
BLAST
Topological domaini832 – 91483Extracellular Reviewed prediction
Add
BLAST
Transmembranei915 – 93521Helical; Reviewed prediction
Add
BLAST
Topological domaini936 – 98146Cytoplasmic Reviewed prediction
Add
BLAST

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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-3
PRO_0000072565Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Sequence similaritiesi

Belongs to the anoctamin family.

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

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 conflict

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

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

« 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].
  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: September 3, 2014
This is version 93 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

Similar proteinsi