UniProtKB - Q5XXA6 (ANO1_HUMAN)
Protein
Anoctamin-1
Gene
ANO1
Organism
Homo sapiens (Human)
Status
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
Miscellaneous
The term 'anoctamin' was coined because these channels are anion selective and are predicted to 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.Curated
Caution
Contains ten transmembrane regions, not eight as predicted.By similarity
Activity 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
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Metal bindingi | 677 | Calcium 1By similarity | 1 | |
Metal bindingi | 680 | Calcium 2By similarity | 1 | |
Metal bindingi | 728 | Calcium 2By similarity | 1 | |
Metal bindingi | 731 | Calcium 1By similarity | 1 | |
Metal bindingi | 760 | Calcium 1By similarity | 1 | |
Metal bindingi | 764 | Calcium 2By similarity | 1 |
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
- metal ion binding Source: UniProtKB-KW
- protein homodimerization activity Source: UniProtKB
- signaling receptor binding Source: Ensembl
- voltage-gated chloride channel activity Source: UniProtKB
GO - Biological processi
- cation transport Source: UniProtKB
- cellular response to heat Source: UniProtKB
- cellular response to peptide Source: Ensembl
- 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
- transmembrane transport Source: GO_Central
Keywordsi
Molecular function | Chloride channel, Developmental protein, Ion channel |
Biological process | Ion transport, Transport |
Ligand | Calcium, Chloride, Metal-binding |
Enzyme and pathway databases
PathwayCommonsi | Q5XXA6 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels |
Protein family/group databases
TCDBi | 1.A.17.1.1, the calcium-dependent chloride channel (ca-clc) family |
Names & Taxonomyi
Protein namesi | Recommended name: Anoctamin-1Alternative 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:DOG11 Publication, ORAOV2, TAOS2, TMEM16A |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:21625, ANO1 |
MIMi | 610108, gene |
neXtProti | NX_Q5XXA6 |
VEuPathDBi | HostDB:ENSG00000131620.17 |
Subcellular locationi
Plasma membrane
- Cell membrane 5 Publications; Multi-pass membrane protein Sequence analysis
Cytoplasm and Cytosol
- Cytoplasm 1 Publication
Note: Cytoplasmic localization seen in neoplastic cells of head and neck squamous cell carcinoma (HNSCC) tumors.1 Publication
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Nucleus
- nucleoplasm Source: HPA
Plasma Membrane
- apical plasma membrane Source: UniProtKB
- integral component of plasma membrane Source: UniProtKB
- plasma membrane Source: UniProtKB
Other locations
- chloride channel complex Source: UniProtKB-KW
- cytoplasm Source: UniProtKB-SubCell
- membrane raft Source: Ensembl
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 333 | CytoplasmicCuratedAdd BLAST | 333 | |
Transmembranei | 334 – 354 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 355 – 406 | ExtracellularCuratedAdd BLAST | 52 | |
Transmembranei | 407 – 427 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 428 – 519 | CytoplasmicCuratedAdd BLAST | 92 | |
Transmembranei | 520 – 540 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 541 – 568 | ExtracellularCuratedAdd BLAST | 28 | |
Transmembranei | 569 – 589 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 590 – 607 | CytoplasmicCuratedAdd BLAST | 18 | |
Transmembranei | 608 – 628 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 629 – 657 | ExtracellularCuratedAdd BLAST | 29 | |
Transmembranei | 658 – 678 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 679 – 725 | CytoplasmicCuratedAdd BLAST | 47 | |
Transmembranei | 726 – 746 | HelicalBy similarityAdd BLAST | 21 | |
Transmembranei | 747 – 767 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 768 – 784 | CytoplasmicCuratedAdd BLAST | 17 | |
Transmembranei | 785 – 805 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 806 – 892 | ExtracellularCuratedAdd BLAST | 87 | |
Transmembranei | 893 – 913 | HelicalBy similarityAdd BLAST | 21 | |
Topological domaini | 914 – 986 | CytoplasmicCuratedAdd BLAST | 73 |
Keywords - Cellular componenti
Cell membrane, Cytoplasm, MembranePathology & Biotechi
Organism-specific databases
DisGeNETi | 55107 |
OpenTargetsi | ENSG00000131620 |
PharmGKBi | PA164715378 |
Miscellaneous databases
Pharosi | Q5XXA6, Tclin |
Chemistry databases
ChEMBLi | CHEMBL2046267 |
DrugBanki | DB04941, Crofelemer |
DrugCentrali | Q5XXA6 |
GuidetoPHARMACOLOGYi | 708 |
Genetic variation databases
BioMutai | ANO1 |
DMDMi | 74708278 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000288435 | 1 – 986 | Anoctamin-1Add BLAST | 986 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 107 | PhosphoserineCombined sources | 1 | |
Modified residuei | 196 | PhosphoserineCombined sources | 1 | |
Disulfide bondi | 370 ↔ 395 | By similarity | ||
Disulfide bondi | 379 ↔ 862 | By similarity | ||
Disulfide bondi | 382 ↔ 386 | By similarity | ||
Disulfide bondi | 651 ↔ 656 | By similarity | ||
Glycosylationi | 832 | N-linked (GlcNAc...) asparagineSequence analysis | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
EPDi | Q5XXA6 |
jPOSTi | Q5XXA6 |
MassIVEi | Q5XXA6 |
MaxQBi | Q5XXA6 |
PaxDbi | Q5XXA6 |
PeptideAtlasi | Q5XXA6 |
PRIDEi | Q5XXA6 |
ProteomicsDBi | 65854 [Q5XXA6-1] 65855 [Q5XXA6-2] 65856 [Q5XXA6-3] |
PTM databases
GlyGeni | Q5XXA6, 1 site |
iPTMneti | Q5XXA6 |
PhosphoSitePlusi | Q5XXA6 |
Expressioni
Tissue specificityi
Broadly expressed with higher levels in liver, skeletal muscle and gastrointestinal muscles.2 Publications
Gene expression databases
Bgeei | ENSG00000131620, Expressed in thoracic aorta and 181 other tissues |
ExpressionAtlasi | Q5XXA6, baseline and differential |
Genevisiblei | Q5XXA6, HS |
Organism-specific databases
HPAi | ENSG00000131620, Group enriched (ductus deferens, epididymis, salivary gland, seminal vesicle) |
Interactioni
Subunit structurei
GO - Molecular functioni
- protein homodimerization activity Source: UniProtKB
- signaling receptor binding Source: Ensembl
Protein-protein interaction databases
BioGRIDi | 120417, 2 interactors |
IntActi | Q5XXA6, 2 interactors |
STRINGi | 9606.ENSP00000347454 |
Chemistry databases
BindingDBi | Q5XXA6 |
Miscellaneous databases
RNActi | Q5XXA6, protein |
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 helixPhylogenomic databases
eggNOGi | KOG2514, Eukaryota |
GeneTreei | ENSGT00940000157182 |
HOGENOMi | CLU_006685_5_2_1 |
InParanoidi | Q5XXA6 |
OMAi | VSHFQDG |
OrthoDBi | 1263362at2759 |
PhylomeDBi | Q5XXA6 |
TreeFami | TF314265 |
Family and domain databases
InterProi | View protein in InterPro IPR032394, Anoct_dimer IPR007632, Anoctamin IPR031287, Anoctamin-1 |
PANTHERi | PTHR12308, PTHR12308, 1 hit PTHR12308:SF13, PTHR12308:SF13, 1 hit |
Pfami | View protein in Pfam PF16178, Anoct_dimer, 1 hit PF04547, Anoctamin, 1 hit |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q5XXA6-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketE9PNA7 | E9PNA7_HUMAN | Anoctamin | ANO1 | 695 | Annotation score: | ||
H0YDD9 | H0YDD9_HUMAN | Anoctamin | ANO1 | 269 | Annotation score: | ||
E9PP68 | E9PP68_HUMAN | Anoctamin-1 | ANO1 | 251 | Annotation score: | ||
E9PS90 | E9PS90_HUMAN | Anoctamin | ANO1 | 151 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 202 | T → A in BAF85777 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 801 | N → D in AAH33036 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 948 | W → C in AAH33036 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_032417 | 608 | F → S. Corresponds to variant dbSNP:rs2186797Ensembl. | 1 | |
Natural variantiVAR_032418 | 983 | G → R. Corresponds to variant dbSNP:rs3740722Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_025665 | 1 – 116 | Missing in isoform 2. 1 PublicationAdd BLAST | 116 | |
Alternative sequenceiVSP_025666 | 1 – 28 | Missing in isoform 3. 1 PublicationAdd BLAST | 28 | |
Alternative sequenceiVSP_025667 | 29 – 36 | GYLPSEGT → MLTRPSQV in isoform 3. 1 Publication | 8 | |
Alternative sequenceiVSP_025668 | 448 – 451 | Missing in isoform 2 and isoform 3. 2 Publications | 4 | |
Alternative sequenceiVSP_025669 | 476 – 501 | Missing in isoform 2 and isoform 3. 2 PublicationsAdd BLAST | 26 | |
Alternative sequenceiVSP_025670 | 651 – 700 | CAPGG…KQQSP → VTEILFISGSPFCLAYDLST PCTWEKQLQHICSAKSSRFL SFLLETFLFP in isoform 3. 1 PublicationAdd BLAST | 50 | |
Alternative sequenceiVSP_025671 | 701 – 986 | Missing in isoform 3. 1 PublicationAdd BLAST | 286 |
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 |
CCDSi | CCDS44663.1 [Q5XXA6-1] |
RefSeqi | NP_060513.5, NM_018043.5 [Q5XXA6-1] XP_006718668.1, XM_006718605.2 [Q5XXA6-2] XP_011543433.1, XM_011545131.2 [Q5XXA6-3] |
Genome annotation databases
Ensembli | ENST00000316296; ENSP00000319477; ENSG00000131620 [Q5XXA6-3] ENST00000355303; ENSP00000347454; ENSG00000131620 [Q5XXA6-1] ENST00000530676; ENSP00000435797; ENSG00000131620 [Q5XXA6-2] |
GeneIDi | 55107 |
KEGGi | hsa:55107 |
UCSCi | uc001opj.4, human [Q5XXA6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
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 |
CCDSi | CCDS44663.1 [Q5XXA6-1] |
RefSeqi | NP_060513.5, NM_018043.5 [Q5XXA6-1] XP_006718668.1, XM_006718605.2 [Q5XXA6-2] XP_011543433.1, XM_011545131.2 [Q5XXA6-3] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 120417, 2 interactors |
IntActi | Q5XXA6, 2 interactors |
STRINGi | 9606.ENSP00000347454 |
Chemistry databases
BindingDBi | Q5XXA6 |
ChEMBLi | CHEMBL2046267 |
DrugBanki | DB04941, Crofelemer |
DrugCentrali | Q5XXA6 |
GuidetoPHARMACOLOGYi | 708 |
Protein family/group databases
TCDBi | 1.A.17.1.1, the calcium-dependent chloride channel (ca-clc) family |
PTM databases
GlyGeni | Q5XXA6, 1 site |
iPTMneti | Q5XXA6 |
PhosphoSitePlusi | Q5XXA6 |
Genetic variation databases
BioMutai | ANO1 |
DMDMi | 74708278 |
Proteomic databases
EPDi | Q5XXA6 |
jPOSTi | Q5XXA6 |
MassIVEi | Q5XXA6 |
MaxQBi | Q5XXA6 |
PaxDbi | Q5XXA6 |
PeptideAtlasi | Q5XXA6 |
PRIDEi | Q5XXA6 |
ProteomicsDBi | 65854 [Q5XXA6-1] 65855 [Q5XXA6-2] 65856 [Q5XXA6-3] |
Protocols and materials databases
Antibodypediai | 30667, 1332 antibodies |
Genome annotation databases
Ensembli | ENST00000316296; ENSP00000319477; ENSG00000131620 [Q5XXA6-3] ENST00000355303; ENSP00000347454; ENSG00000131620 [Q5XXA6-1] ENST00000530676; ENSP00000435797; ENSG00000131620 [Q5XXA6-2] |
GeneIDi | 55107 |
KEGGi | hsa:55107 |
UCSCi | uc001opj.4, human [Q5XXA6-1] |
Organism-specific databases
CTDi | 55107 |
DisGeNETi | 55107 |
GeneCardsi | ANO1 |
HGNCi | HGNC:21625, ANO1 |
HPAi | ENSG00000131620, Group enriched (ductus deferens, epididymis, salivary gland, seminal vesicle) |
MIMi | 610108, gene |
neXtProti | NX_Q5XXA6 |
OpenTargetsi | ENSG00000131620 |
PharmGKBi | PA164715378 |
VEuPathDBi | HostDB:ENSG00000131620.17 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2514, Eukaryota |
GeneTreei | ENSGT00940000157182 |
HOGENOMi | CLU_006685_5_2_1 |
InParanoidi | Q5XXA6 |
OMAi | VSHFQDG |
OrthoDBi | 1263362at2759 |
PhylomeDBi | Q5XXA6 |
TreeFami | TF314265 |
Enzyme and pathway databases
PathwayCommonsi | Q5XXA6 |
Reactomei | R-HSA-2672351, Stimuli-sensing channels |
Miscellaneous databases
BioGRID-ORCSi | 55107, 11 hits in 982 CRISPR screens |
ChiTaRSi | ANO1, human |
GeneWikii | ANO1 |
GenomeRNAii | 55107 |
Pharosi | Q5XXA6, Tclin |
PROi | PR:Q5XXA6 |
RNActi | Q5XXA6, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000131620, Expressed in thoracic aorta and 181 other tissues |
ExpressionAtlasi | Q5XXA6, baseline and differential |
Genevisiblei | Q5XXA6, HS |
Family and domain databases
InterProi | View protein in InterPro IPR032394, Anoct_dimer IPR007632, Anoctamin IPR031287, Anoctamin-1 |
PANTHERi | PTHR12308, PTHR12308, 1 hit PTHR12308:SF13, PTHR12308:SF13, 1 hit |
Pfami | View protein in Pfam PF16178, Anoct_dimer, 1 hit PF04547, Anoctamin, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ANO1_HUMAN | |
Accessioni | Q5XXA6Primary (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: | April 7, 2021 | |
This is version 138 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families