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Protein

Anoctamin-1

Gene

ANO1

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

Functioni

Calcium-activated chloride channel (CaCC) which plays a role in transepithelial anion transport and smooth muscle contraction. Required for the normal functioning of the interstitial cells of Cajal (ICCs) which generate electrical pacemaker activity in gastrointestinal smooth muscles. Acts as a major contributor to basal and stimulated chloride conductance in airway epithelial cells and plays an important role in tracheal cartilage development.4 Publications

Enzyme regulationi

ATP and calmodulin are essential for its activation. Channel activity is inhibited by CFTR protein and by chloride inhibitors such as niflumic acid (NFA) and 4,4'-diisothiocyanatostilbene-2,2'-disulfonic acid (DIDS).1 Publication

GO - Molecular functioni

  • calcium activated cation channel activity Source: UniProtKB
  • chloride channel activity Source: UniProtKB
  • intracellular calcium activated chloride channel activity Source: UniProtKB
  • iodide transmembrane transporter activity Source: UniProtKB
  • voltage-gated chloride channel activity Source: UniProtKB

GO - Biological processi

  • cation transport Source: UniProtKB
  • cellular response to heat Source: UniProtKB
  • chloride transmembrane transport Source: UniProtKB
  • chloride transport Source: UniProtKB
  • detection of temperature stimulus involved in sensory perception of pain Source: UniProtKB
  • iodide transport Source: UniProtKB
  • ion transmembrane transport Source: Reactome
  • multicellular organism development Source: UniProtKB-KW
  • phospholipase C-activating G-protein coupled receptor signaling pathway Source: UniProtKB
  • positive regulation of insulin secretion involved in cellular response to glucose stimulus Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Chloride channel, Developmental protein, Ion channel

Keywords - Biological processi

Ion transport, Transport

Keywords - Ligandi

Calcium, Chloride

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Protein family/group databases

TCDBi1.A.17.1.1. the calcium-dependent chloride channel (ca-clc) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Anoctamin-1
Alternative name(s):
Discovered on gastrointestinal stromal tumors protein 1
Oral cancer overexpressed protein 2
Transmembrane protein 16A
Tumor-amplified and overexpressed sequence 2
Gene namesi
Name:ANO1
Synonyms:DOG1, ORAOV2, TAOS2, TMEM16A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:21625. ANO1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini1 – 333CytoplasmicSequence analysisAdd BLAST333
Transmembranei334 – 354HelicalSequence analysisAdd BLAST21
Topological domaini355 – 402ExtracellularSequence analysisAdd BLAST48
Transmembranei403 – 423HelicalSequence analysisAdd BLAST21
Topological domaini424 – 519CytoplasmicSequence analysisAdd BLAST96
Transmembranei520 – 540HelicalSequence analysisAdd BLAST21
Topological domaini541 – 565ExtracellularSequence analysisAdd BLAST25
Transmembranei566 – 586HelicalSequence analysisAdd BLAST21
Topological domaini587 – 606CytoplasmicSequence analysisAdd BLAST20
Transmembranei607 – 627HelicalSequence analysisAdd BLAST21
Topological domaini628 – 731ExtracellularSequence analysisAdd BLAST104
Transmembranei732 – 752HelicalSequence analysisAdd BLAST21
Topological domaini753 – 791CytoplasmicSequence analysisAdd BLAST39
Transmembranei792 – 812HelicalSequence analysisAdd BLAST21
Topological domaini813 – 882ExtracellularSequence analysisAdd BLAST70
Transmembranei883 – 903HelicalSequence analysisAdd BLAST21
Topological domaini904 – 986CytoplasmicSequence analysisAdd BLAST83

GO - Cellular componenti

  • apical plasma membrane Source: UniProtKB
  • chloride channel complex Source: UniProtKB-KW
  • cytoplasm Source: UniProtKB-SubCell
  • extracellular exosome Source: UniProtKB
  • plasma membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi55107.
OpenTargetsiENSG00000131620.
PharmGKBiPA164715378.

Chemistry databases

ChEMBLiCHEMBL2046267.
DrugBankiDB04941. Crofelemer.
GuidetoPHARMACOLOGYi708.

Polymorphism and mutation databases

BioMutaiANO1.
DMDMi74708278.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002884351 – 986Anoctamin-1Add BLAST986

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei107PhosphoserineCombined sources1
Modified residuei196PhosphoserineCombined sources1
Glycosylationi832N-linked (GlcNAc...)Sequence analysis1

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ5XXA6.
MaxQBiQ5XXA6.
PaxDbiQ5XXA6.
PeptideAtlasiQ5XXA6.
PRIDEiQ5XXA6.

PTM databases

iPTMnetiQ5XXA6.
PhosphoSitePlusiQ5XXA6.

Expressioni

Tissue specificityi

Broadly expressed with higher levels in liver, skeletal muscle and gastrointestinal muscles.2 Publications

Gene expression databases

BgeeiENSG00000131620.
CleanExiHS_ANO1.
ExpressionAtlasiQ5XXA6. baseline and differential.
GenevisibleiQ5XXA6. HS.

Organism-specific databases

HPAiHPA032148.

Interactioni

Subunit structurei

Homodimer (PubMed:21056985). Interacts with CFTR (PubMed:22178883). Interacts with TRPV4 (By similarity).By similarity2 Publications

Protein-protein interaction databases

BioGridi120417. 1 interactor.
IntActiQ5XXA6. 1 interactor.
STRINGi9606.ENSP00000347454.

Chemistry databases

BindingDBiQ5XXA6.

Structurei

3D structure databases

ProteinModelPortaliQ5XXA6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

The region spanning the fifth and sixth transmembrane domains probably forms the pore-forming region.By similarity

Sequence similaritiesi

Belongs to the anoctamin family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2514. Eukaryota.
ENOG410XS4S. LUCA.
GeneTreeiENSGT00760000119015.
HOGENOMiHOG000006509.
HOVERGENiHBG069519.
InParanoidiQ5XXA6.
KOiK19496.
OMAiDPDAECK.
OrthoDBiEOG091G01JF.
PhylomeDBiQ5XXA6.
TreeFamiTF314265.

Family and domain databases

InterProiIPR032394. Anoct_dimer.
IPR007632. Anoctamin.
IPR031287. Anoctamin-1.
[Graphical view]
PANTHERiPTHR12308. PTHR12308. 2 hits.
PTHR12308:SF13. PTHR12308:SF13. 2 hits.
PfamiPF16178. Anoct_dimer. 1 hit.
PF04547. Anoctamin. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q5XXA6-1) [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
MRVNEKYSTL PAEDRSVHII NICAIEDIGY LPSEGTLLNS LSVDPDAECK
60 70 80 90 100
YGLYFRDGRR KVDYILVYHH KRPSGNRTLV RRVQHSDTPS GARSVKQDHP
110 120 130 140 150
LPGKGASLDA GSGEPPMDYH EDDKRFRREE YEGNLLEAGL ELERDEDTKI
160 170 180 190 200
HGVGFVKIHA PWNVLCREAE FLKLKMPTKK MYHINETRGL LKKINSVLQK
210 220 230 240 250
ITDPIQPKVA EHRPQTMKRL SYPFSREKQH LFDLSDKDSF FDSKTRSTIV
260 270 280 290 300
YEILKRTTCT KAKYSMGITS LLANGVYAAA YPLHDGDYNG ENVEFNDRKL
310 320 330 340 350
LYEEWARYGV FYKYQPIDLV RKYFGEKIGL YFAWLGVYTQ MLIPASIVGI
360 370 380 390 400
IVFLYGCATM DENIPSMEMC DQRHNITMCP LCDKTCSYWK MSSACATARA
410 420 430 440 450
SHLFDNPATV FFSVFMALWA ATFMEHWKRK QMRLNYRWDL TGFEEEEEAV
460 470 480 490 500
KDHPRAEYEA RVLEKSLKKE SRNKEKRRHI PEESTNKWKQ RVKTAMAGVK
510 520 530 540 550
LTDKVKLTWR DRFPAYLTNL VSIIFMIAVT FAIVLGVIIY RISMAAALAM
560 570 580 590 600
NSSPSVRSNI RVTVTATAVI INLVVIILLD EVYGCIARWL TKIEVPKTEK
610 620 630 640 650
SFEERLIFKA FLLKFVNSYT PIFYVAFFKG RFVGRPGDYV YIFRSFRMEE
660 670 680 690 700
CAPGGCLMEL CIQLSIIMLG KQLIQNNLFE IGIPKMKKLI RYLKLKQQSP
710 720 730 740 750
PDHEECVKRK QRYEVDYNLE PFAGLTPEYM EMIIQFGFVT LFVASFPLAP
760 770 780 790 800
LFALLNNIIE IRLDAKKFVT ELRRPVAVRA KDIGIWYNIL RGIGKLAVII
810 820 830 840 850
NAFVISFTSD FIPRLVYLYM YSKNGTMHGF VNHTLSSFNV SDFQNGTAPN
860 870 880 890 900
DPLDLGYEVQ ICRYKDYREP PWSENKYDIS KDFWAVLAAR LAFVIVFQNL
910 920 930 940 950
VMFMSDFVDW VIPDIPKDIS QQIHKEKVLM VELFMREEQD KQQLLETWME
960 970 980
KERQKDEPPC NHHNTKACPD SLGSPAPSHA YHGGVL
Length:986
Mass (Da):114,078
Last modified:November 23, 2004 - v1
Checksum:iE30A02F91EF36FC2
GO
Isoform 2 (identifier: Q5XXA6-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-116: Missing.
     448-451: Missing.
     476-501: Missing.

Note: No experimental confirmation available.
Show »
Length:840
Mass (Da):97,736
Checksum:i43B0D18B6FD82C3A
GO
Isoform 3 (identifier: Q5XXA6-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-28: Missing.
     29-36: GYLPSEGT → MLTRPSQV
     448-451: Missing.
     476-501: Missing.
     651-700: CAPGGCLMEL...RYLKLKQQSP → VTEILFISGS...SFLLETFLFP
     701-986: Missing.

Note: No experimental confirmation available.
Show »
Length:642
Mass (Da):74,369
Checksum:i6F7B524B54FD032B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti202T → A in BAF85777 (PubMed:14702039).Curated1
Sequence conflicti801N → D in AAH33036 (PubMed:15489334).Curated1
Sequence conflicti948W → C in AAH33036 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032417608F → S.Corresponds to variant rs2186797dbSNPEnsembl.1
Natural variantiVAR_032418983G → R.Corresponds to variant rs3740722dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0256651 – 116Missing in isoform 2. 1 PublicationAdd BLAST116
Alternative sequenceiVSP_0256661 – 28Missing in isoform 3. 1 PublicationAdd BLAST28
Alternative sequenceiVSP_02566729 – 36GYLPSEGT → MLTRPSQV in isoform 3. 1 Publication8
Alternative sequenceiVSP_025668448 – 451Missing in isoform 2 and isoform 3. 2 Publications4
Alternative sequenceiVSP_025669476 – 501Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST26
Alternative sequenceiVSP_025670651 – 700CAPGG…KQQSP → VTEILFISGSPFCLAYDLST PCTWEKQLQHICSAKSSRFL SFLLETFLFP in isoform 3. 1 PublicationAdd BLAST50
Alternative sequenceiVSP_025671701 – 986Missing in isoform 3. 1 PublicationAdd BLAST286

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY728143 mRNA. Translation: AAU82085.1.
AK097619 mRNA. Translation: BAC05123.1.
AK293088 mRNA. Translation: BAF85777.1.
BC033036 mRNA. Translation: AAH33036.2.
CCDSiCCDS44663.1. [Q5XXA6-1]
RefSeqiNP_060513.5. NM_018043.5. [Q5XXA6-1]
XP_006718668.1. XM_006718605.2. [Q5XXA6-2]
XP_011543433.1. XM_011545131.2. [Q5XXA6-3]
UniGeneiHs.503074.

Genome annotation databases

EnsembliENST00000316296; ENSP00000319477; ENSG00000131620. [Q5XXA6-3]
ENST00000355303; ENSP00000347454; ENSG00000131620. [Q5XXA6-1]
ENST00000530676; ENSP00000435797; ENSG00000131620. [Q5XXA6-2]
GeneIDi55107.
KEGGihsa:55107.
UCSCiuc001opj.4. human. [Q5XXA6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY728143 mRNA. Translation: AAU82085.1.
AK097619 mRNA. Translation: BAC05123.1.
AK293088 mRNA. Translation: BAF85777.1.
BC033036 mRNA. Translation: AAH33036.2.
CCDSiCCDS44663.1. [Q5XXA6-1]
RefSeqiNP_060513.5. NM_018043.5. [Q5XXA6-1]
XP_006718668.1. XM_006718605.2. [Q5XXA6-2]
XP_011543433.1. XM_011545131.2. [Q5XXA6-3]
UniGeneiHs.503074.

3D structure databases

ProteinModelPortaliQ5XXA6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120417. 1 interactor.
IntActiQ5XXA6. 1 interactor.
STRINGi9606.ENSP00000347454.

Chemistry databases

BindingDBiQ5XXA6.
ChEMBLiCHEMBL2046267.
DrugBankiDB04941. Crofelemer.
GuidetoPHARMACOLOGYi708.

Protein family/group databases

TCDBi1.A.17.1.1. the calcium-dependent chloride channel (ca-clc) family.

PTM databases

iPTMnetiQ5XXA6.
PhosphoSitePlusiQ5XXA6.

Polymorphism and mutation databases

BioMutaiANO1.
DMDMi74708278.

Proteomic databases

EPDiQ5XXA6.
MaxQBiQ5XXA6.
PaxDbiQ5XXA6.
PeptideAtlasiQ5XXA6.
PRIDEiQ5XXA6.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000316296; ENSP00000319477; ENSG00000131620. [Q5XXA6-3]
ENST00000355303; ENSP00000347454; ENSG00000131620. [Q5XXA6-1]
ENST00000530676; ENSP00000435797; ENSG00000131620. [Q5XXA6-2]
GeneIDi55107.
KEGGihsa:55107.
UCSCiuc001opj.4. human. [Q5XXA6-1]

Organism-specific databases

CTDi55107.
DisGeNETi55107.
GeneCardsiANO1.
HGNCiHGNC:21625. ANO1.
HPAiHPA032148.
MIMi610108. gene.
neXtProtiNX_Q5XXA6.
OpenTargetsiENSG00000131620.
PharmGKBiPA164715378.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2514. Eukaryota.
ENOG410XS4S. LUCA.
GeneTreeiENSGT00760000119015.
HOGENOMiHOG000006509.
HOVERGENiHBG069519.
InParanoidiQ5XXA6.
KOiK19496.
OMAiDPDAECK.
OrthoDBiEOG091G01JF.
PhylomeDBiQ5XXA6.
TreeFamiTF314265.

Enzyme and pathway databases

ReactomeiR-HSA-2672351. Stimuli-sensing channels.

Miscellaneous databases

ChiTaRSiANO1. human.
GeneWikiiANO1.
GenomeRNAii55107.
PROiQ5XXA6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131620.
CleanExiHS_ANO1.
ExpressionAtlasiQ5XXA6. baseline and differential.
GenevisibleiQ5XXA6. HS.

Family and domain databases

InterProiIPR032394. Anoct_dimer.
IPR007632. Anoctamin.
IPR031287. Anoctamin-1.
[Graphical view]
PANTHERiPTHR12308. PTHR12308. 2 hits.
PTHR12308:SF13. PTHR12308:SF13. 2 hits.
PfamiPF16178. Anoct_dimer. 1 hit.
PF04547. Anoctamin. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiANO1_HUMAN
AccessioniPrimary (citable) accession number: Q5XXA6
Secondary accession number(s): A8KAM3, Q8IYY8, Q8N7V3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: November 23, 2004
Last modified: November 2, 2016
This is version 110 of the entry and version 1 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.