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Protein

Anoctamin-3

Gene

ANO3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Lipid transport, Transport

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134343-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Protein family/group databases

TCDBi1.A.17.1.20. the calcium-dependent chloride channel (ca-clc) family.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:14004. ANO3.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 403CytoplasmicSequence analysisAdd BLAST403
Transmembranei404 – 424HelicalSequence analysisAdd BLAST21
Topological domaini425 – 469ExtracellularSequence analysisAdd BLAST45
Transmembranei470 – 490HelicalSequence analysisAdd BLAST21
Topological domaini491 – 550CytoplasmicSequence analysisAdd BLAST60
Transmembranei551 – 571HelicalSequence analysisAdd BLAST21
Topological domaini572 – 592ExtracellularSequence analysisAdd BLAST21
Transmembranei593 – 613HelicalSequence analysisAdd BLAST21
Topological domaini614 – 640CytoplasmicSequence analysisAdd BLAST27
Transmembranei641 – 661HelicalSequence analysisAdd BLAST21
Topological domaini662 – 761ExtracellularSequence analysisAdd BLAST100
Transmembranei762 – 782HelicalSequence analysisAdd BLAST21
Topological domaini783 – 810CytoplasmicSequence analysisAdd BLAST28
Transmembranei811 – 831HelicalSequence analysisAdd BLAST21
Topological domaini832 – 914ExtracellularSequence analysisAdd BLAST83
Transmembranei915 – 935HelicalSequence analysisAdd BLAST21
Topological domaini936 – 981CytoplasmicSequence analysisAdd BLAST46

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

Dystonia 24 (DYT24)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:615034
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069732490W → C in DYT24. 1 Publication1
Natural variantiVAR_069733494R → W in DYT24. 1 PublicationCorresponds to variant rs587776922dbSNPEnsembl.1
Natural variantiVAR_069734685S → G in DYT24. 1 PublicationCorresponds to variant rs587776923dbSNPEnsembl.1
Natural variantiVAR_069735862K → N in DYT24. 1 Publication1

Keywords - Diseasei

Disease mutation, Dystonia

Organism-specific databases

DisGeNETi63982.
MalaCardsiANO3.
MIMi615034. phenotype.
OpenTargetsiENSG00000134343.
Orphaneti93962. Autosomal dominant cervical dystonia.
PharmGKBiPA25489.

Polymorphism and mutation databases

BioMutaiANO3.
DMDMi296434396.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000725651 – 981Anoctamin-3Add BLAST981

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi425N-linked (GlcNAc...)Sequence analysis1
Glycosylationi448N-linked (GlcNAc...)Sequence analysis1
Glycosylationi455N-linked (GlcNAc...)Sequence analysis1
Glycosylationi866N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9BYT9.
PeptideAtlasiQ9BYT9.
PRIDEiQ9BYT9.

PTM databases

iPTMnetiQ9BYT9.
PhosphoSitePlusiQ9BYT9.

Expressioni

Tissue specificityi

Highly expressed in the forebrain striatum.1 Publication

Gene expression databases

BgeeiENSG00000134343.
CleanExiHS_ANO3.
ExpressionAtlasiQ9BYT9. baseline and differential.
GenevisibleiQ9BYT9. HS.

Organism-specific databases

HPAiHPA041629.

Interactioni

Subunit structurei

Interacts with KCNT1/Slack.By similarity

Protein-protein interaction databases

BioGridi122027. 8 interactors.
IntActiQ9BYT9. 8 interactors.
STRINGi9606.ENSP00000256737.

Structurei

3D structure databases

ProteinModelPortaliQ9BYT9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the anoctamin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2514. Eukaryota.
ENOG410XS4S. LUCA.
GeneTreeiENSGT00760000119015.
HOGENOMiHOG000006509.
HOVERGENiHBG069519.
InParanoidiQ9BYT9.
KOiK19498.
OMAiEICEANE.
OrthoDBiEOG091G01JF.
PhylomeDBiQ9BYT9.
TreeFamiTF314265.

Family and domain databases

InterProiIPR032394. Anoct_dimer.
IPR007632. Anoctamin.
IPR031292. Anoctamin-3.
[Graphical view]
PANTHERiPTHR12308. PTHR12308. 1 hit.
PTHR12308:SF16. PTHR12308:SF16. 1 hit.
PfamiPF16178. Anoct_dimer. 1 hit.
PF04547. Anoctamin. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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)DescriptionActionsGraphical viewLength
Sequence conflicti162K → R in CAC32454 (Ref. 1) Curated1
Sequence conflicti176Q → P in CAC32454 (Ref. 1) Curated1
Sequence conflicti256N → D in CAC32454 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069732490W → C in DYT24. 1 Publication1
Natural variantiVAR_069733494R → W in DYT24. 1 PublicationCorresponds to variant rs587776922dbSNPEnsembl.1
Natural variantiVAR_069734685S → G in DYT24. 1 PublicationCorresponds to variant rs587776923dbSNPEnsembl.1
Natural variantiVAR_057287781L → V.Corresponds to variant rs11825056dbSNPEnsembl.1
Natural variantiVAR_069735862K → N in DYT24. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0568931 – 146Missing in isoform 2. 1 PublicationAdd BLAST146

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. [Q9BYT9-1]
CCDS81557.1. [Q9BYT9-2]
RefSeqiNP_001300655.1. NM_001313726.1.
NP_001300656.1. NM_001313727.1. [Q9BYT9-2]
NP_113606.2. NM_031418.3. [Q9BYT9-1]
XP_016873607.1. XM_017018118.1. [Q9BYT9-2]
UniGeneiHs.577269.
Hs.91791.

Genome annotation databases

EnsembliENST00000256737; ENSP00000256737; ENSG00000134343. [Q9BYT9-1]
ENST00000531568; ENSP00000432394; ENSG00000134343. [Q9BYT9-2]
GeneIDi63982.
KEGGihsa:63982.
UCSCiuc001mqt.5. human. [Q9BYT9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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. [Q9BYT9-1]
CCDS81557.1. [Q9BYT9-2]
RefSeqiNP_001300655.1. NM_001313726.1.
NP_001300656.1. NM_001313727.1. [Q9BYT9-2]
NP_113606.2. NM_031418.3. [Q9BYT9-1]
XP_016873607.1. XM_017018118.1. [Q9BYT9-2]
UniGeneiHs.577269.
Hs.91791.

3D structure databases

ProteinModelPortaliQ9BYT9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi122027. 8 interactors.
IntActiQ9BYT9. 8 interactors.
STRINGi9606.ENSP00000256737.

Protein family/group databases

TCDBi1.A.17.1.20. the calcium-dependent chloride channel (ca-clc) family.

PTM databases

iPTMnetiQ9BYT9.
PhosphoSitePlusiQ9BYT9.

Polymorphism and mutation databases

BioMutaiANO3.
DMDMi296434396.

Proteomic databases

PaxDbiQ9BYT9.
PeptideAtlasiQ9BYT9.
PRIDEiQ9BYT9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000256737; ENSP00000256737; ENSG00000134343. [Q9BYT9-1]
ENST00000531568; ENSP00000432394; ENSG00000134343. [Q9BYT9-2]
GeneIDi63982.
KEGGihsa:63982.
UCSCiuc001mqt.5. human. [Q9BYT9-1]

Organism-specific databases

CTDi63982.
DisGeNETi63982.
GeneCardsiANO3.
H-InvDBHIX0035914.
HGNCiHGNC:14004. ANO3.
HPAiHPA041629.
MalaCardsiANO3.
MIMi610110. gene.
615034. phenotype.
neXtProtiNX_Q9BYT9.
OpenTargetsiENSG00000134343.
Orphaneti93962. Autosomal dominant cervical dystonia.
PharmGKBiPA25489.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2514. Eukaryota.
ENOG410XS4S. LUCA.
GeneTreeiENSGT00760000119015.
HOGENOMiHOG000006509.
HOVERGENiHBG069519.
InParanoidiQ9BYT9.
KOiK19498.
OMAiEICEANE.
OrthoDBiEOG091G01JF.
PhylomeDBiQ9BYT9.
TreeFamiTF314265.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000134343-MONOMER.
ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSiANO3. human.
GenomeRNAii63982.
PROiQ9BYT9.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000134343.
CleanExiHS_ANO3.
ExpressionAtlasiQ9BYT9. baseline and differential.
GenevisibleiQ9BYT9. HS.

Family and domain databases

InterProiIPR032394. Anoct_dimer.
IPR007632. Anoctamin.
IPR031292. Anoctamin-3.
[Graphical view]
PANTHERiPTHR12308. PTHR12308. 1 hit.
PTHR12308:SF16. PTHR12308:SF16. 1 hit.
PfamiPF16178. Anoct_dimer. 1 hit.
PF04547. Anoctamin. 1 hit.
[Graphical view]
ProtoNetiSearch...

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: November 2, 2016
This is version 116 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.