Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ANO1 Gene

Aliases for ANO1 Gene

  • Anoctamin 1 2 3 5
  • Discovered On Gastrointestinal Stromal Tumors Protein 1 3 4
  • Anoctamin 1, Calcium Activated Chloride Channel 2 3
  • Tumor-Amplified And Overexpressed Sequence 2 3 4
  • Oral Cancer Overexpressed 2 2 3
  • Transmembrane Protein 16A 2 4
  • TMEM16A 3 4
  • ORAOV2 3 4
  • TAOS2 3 4
  • DOG1 3 4
  • Transmembrane Protein 16A (Eight Membrane-Spanning Domains) 3
  • Oral Cancer Overexpressed Protein 2 4
  • Calcium Activated Chloride Channel 3
  • Ca2+-Activated Cl- Channel 3
  • Anoctamin-1 3

External Ids for ANO1 Gene

Previous HGNC Symbols for ANO1 Gene

  • ORAOV2
  • TMEM16A

Previous GeneCards Identifiers for ANO1 Gene

  • GC11P069604
  • GC11P069925
  • GC11P066184
  • GC11P069927
  • GC11P069929

Summaries for ANO1 Gene

GeneCards Summary for ANO1 Gene

ANO1 (Anoctamin 1) is a Protein Coding gene. Diseases associated with ANO1 include Frontal Sinus Squamous Cell Carcinoma and Liver Leiomyoma. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Neuroscience. GO annotations related to this gene include protein homodimerization activity and intracellular calcium activated chloride channel activity. An important paralog of this gene is ANO2.

UniProtKB/Swiss-Prot for ANO1 Gene

  • 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.

Tocris Summary for ANO1 Gene

  • Chloride channels are a family of anion-selective channels involved in the regulation of the excitability of neurons, skeletal, cardiac and smooth muscle, cell volume regulation, transepithelial salt transport and the acidification of intra- and extracellular compartments.

Gene Wiki entry for ANO1 Gene

Additional gene information for ANO1 Gene

No data available for Entrez Gene Summary , CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANO1 Gene

Genomics for ANO1 Gene

Regulatory Elements for ANO1 Gene

Enhancers for ANO1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H069292 2 FANTOM5 Ensembl ENCODE dbSUPER 10 -779.7 -779696 11 HDGF PKNOX1 ARID4B SIN3A YBX1 FEZF1 ZBTB7B ZNF766 ZNF143 ZNF207 ORAOV1 PPP6R3 ENSG00000260808 TPCN2 FADD IGHMBP2 LRP5 ANO1 MRGPRF-AS1 MRGPRF
GH11H069947 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -129.1 -129116 3 PKNOX1 ZNF2 ZBTB7B TCF12 ZNF766 CBX5 GATA2 ATF7 FOS DEK FADD ENSG00000254721 ANO1 ANO1-AS1 ENSG00000260679 ENSG00000255191
GH11H069635 1.7 FANTOM5 ENCODE dbSUPER 10 -435.8 -435837 13 PKNOX1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZNF143 ZHX2 ORAOV1 PPFIA1 ANO1 CCND1
GH11H069121 1.5 Ensembl ENCODE dbSUPER 10 -955.2 -955196 2 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A BRCA1 ZBTB7B GLIS2 FOS ORAOV1 LRP5 ANO1 LOC338694 MRGPRF-AS1 PIR51352 ENSG00000260895
GH11H069273 1.4 FANTOM5 ENCODE dbSUPER 10 -803.7 -803717 1 HDGF FOXA2 PKNOX1 SIN3A YBX1 RAD21 ZNF366 ZNF207 FOS ATF7 ORAOV1 PPP6R3 ENSG00000260808 TPCN2 FADD MRGPRF-AS1 IGHMBP2 LRP5 ANO1 MRGPRF
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANO1 on UCSC Golden Path with GeneCards custom track

Promoters for ANO1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000041457 99 400 CTCF RB1 SUZ12 REST RAD21 ZFX EZH2

Genomic Location for ANO1 Gene

Chromosome:
11
Start:
70,078,302 bp from pter
End:
70,189,545 bp from pter
Size:
111,244 bases
Orientation:
Plus strand

Genomic View for ANO1 Gene

Genes around ANO1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANO1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANO1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANO1 Gene

Proteins for ANO1 Gene

  • Protein details for ANO1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5XXA6-ANO1_HUMAN
    Recommended name:
    Anoctamin-1
    Protein Accession:
    Q5XXA6
    Secondary Accessions:
    • A8KAM3
    • Q8IYY8
    • Q8N7V3

    Protein attributes for ANO1 Gene

    Size:
    986 amino acids
    Molecular mass:
    114078 Da
    Quaternary structure:
    • Homodimer (PubMed:21056985). Interacts with CFTR (PubMed:22178883). Interacts with TRPV4 (By similarity).
    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.

    Alternative splice isoforms for ANO1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANO1 Gene

Post-translational modifications for ANO1 Gene

  • Glycosylation at posLast=832832
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ANO1 Gene

Domains & Families for ANO1 Gene

Gene Families for ANO1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ANO1 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANO1 Gene

Graphical View of Domain Structure for InterPro Entry

Q5XXA6

UniProtKB/Swiss-Prot:

ANO1_HUMAN :
  • The region spanning the fifth and sixth transmembrane domains probably forms the pore-forming region.
  • Belongs to the anoctamin family.
Domain:
  • The region spanning the fifth and sixth transmembrane domains probably forms the pore-forming region.
Family:
  • Belongs to the anoctamin family.
genes like me logo Genes that share domains with ANO1: view

Function for ANO1 Gene

Molecular function for ANO1 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
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).
UniProtKB/Swiss-Prot Function:
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.

Phenotypes From GWAS Catalog for ANO1 Gene

Gene Ontology (GO) - Molecular Function for ANO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005227 calcium activated cation channel activity IDA 22946059
GO:0005229 intracellular calcium activated chloride channel activity TAS --
GO:0005247 voltage-gated chloride channel activity ISS --
GO:0005254 chloride channel activity IMP 24885604
GO:0005515 protein binding IPI 22178883
genes like me logo Genes that share ontologies with ANO1: view
genes like me logo Genes that share phenotypes with ANO1: view

Animal Models for ANO1 Gene

MGI Knock Outs for ANO1:

Animal Model Products

CRISPR Products

miRNA for ANO1 Gene

miRTarBase miRNAs that target ANO1

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ANO1 Gene

Localization for ANO1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANO1 Gene

Cell membrane; Multi-pass membrane protein. Cytoplasm. Note=Cytoplasmic localization seen in neoplastic cells of head and neck squamous cell carcinoma (HNSCC) tumors. {ECO:0000269 PubMed:16261155}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANO1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
cytosol 1

Gene Ontology (GO) - Cellular Components for ANO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IDA 25201006
genes like me logo Genes that share ontologies with ANO1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ANO1 Gene

Pathways & Interactions for ANO1 Gene

genes like me logo Genes that share pathways with ANO1: view

Pathways by source for ANO1 Gene

1 Cell Signaling Technology pathway for ANO1 Gene

Gene Ontology (GO) - Biological Process for ANO1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IDA 22946059
GO:0006821 chloride transport ISS --
GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway ISS --
genes like me logo Genes that share ontologies with ANO1: view

No data available for SIGNOR curated interactions for ANO1 Gene

Drugs & Compounds for ANO1 Gene

(14) Drugs for ANO1 Gene - From: DrugBank, DGIdb, IUPHAR, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Crofelemer Approved Pharma Target, antagonist 0
Fluoxetine Approved, Vet_approved Pharma Channel blocker, inhibitor 243
Niflumic Acid Approved Pharma Channel blocker, inhibitor Ca2+-activated Cl- channel blocker 0
tannic acid Approved Nutra Channel blocker 2123
Flufenamic Acid Experimental Pharma Channel blocker 1

(3) Additional Compounds for ANO1 Gene - From: HMDB, IUPHAR, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
9-A-C
Channel blocker
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
16887-00-6
GlyH 101
328541-79-3

(1) Tocris Compounds for ANO1 Gene

Compound Action Cas Number
GlyH 101 Reversible, voltage-dependent CFTR chloride channel blocker 328541-79-3
genes like me logo Genes that share compounds with ANO1: view

Transcripts for ANO1 Gene

Unigene Clusters for ANO1 Gene

Anoctamin 1, calcium activated chloride channel:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANO1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^
SP1: - - - - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: - - - -
SP6:

ExUns: 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for ANO1 Gene

GeneLoc Exon Structure for
ANO1
ECgene alternative splicing isoforms for
ANO1

Expression for ANO1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANO1 Gene

mRNA differential expression in normal tissues according to GTEx for ANO1 Gene

This gene is overexpressed in Artery - Aorta (x7.1).

Protein differential expression in normal tissues from HIPED for ANO1 Gene

This gene is overexpressed in Lung (59.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANO1 Gene



NURSA nuclear receptor signaling pathways regulating expression of ANO1 Gene:

ANO1

SOURCE GeneReport for Unigene cluster for ANO1 Gene:

Hs.503074

mRNA Expression by UniProt/SwissProt for ANO1 Gene:

Q5XXA6-ANO1_HUMAN
Tissue specificity: Broadly expressed with higher levels in liver, skeletal muscle and gastrointestinal muscles.

Evidence on tissue expression from TISSUES for ANO1 Gene

  • Liver(4.5)
  • Stomach(2.8)
  • Muscle(2.7)
  • Intestine(2.4)
  • Lung(2.2)
  • Skin(2.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with ANO1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ANO1 Gene

Orthologs for ANO1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANO1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANO1 33
  • 98.3 (n)
cow
(Bos Taurus)
Mammalia ANO1 33 34
  • 90.24 (n)
dog
(Canis familiaris)
Mammalia ANO1 33 34
  • 89.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ANO1 34
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ano1 33
  • 85.68 (n)
mouse
(Mus musculus)
Mammalia Ano1 33 16 34
  • 85.44 (n)
oppossum
(Monodelphis domestica)
Mammalia ANO1 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves ANO1 33 34
  • 77.08 (n)
lizard
(Anolis carolinensis)
Reptilia ANO1 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ano1 33
  • 73.5 (n)
zebrafish
(Danio rerio)
Actinopterygii ano1 33
  • 68.33 (n)
CABZ01015106.1 34
  • 36 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG16718 33 34
  • 53.57 (n)
CG10353 34
  • 30 (a)
ManyToMany
Species where no ortholog for ANO1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANO1 Gene

ENSEMBL:
Gene Tree for ANO1 (if available)
TreeFam:
Gene Tree for ANO1 (if available)

Paralogs for ANO1 Gene

Paralogs for ANO1 Gene

(8) SIMAP similar genes for ANO1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with ANO1: view

Variants for ANO1 Gene

Sequence variations from dbSNP and Humsavar for ANO1 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000004795 -- 70,169,155(+) TGGGC(A/C)GCGAG intron-variant
rs1000040531 -- 70,094,942(+) TGGCT(C/T)ATGCC intron-variant
rs1000060195 -- 70,162,923(+) CCCAC(C/T)GTGCC intron-variant
rs1000072242 -- 70,103,498(+) GTGGT(G/T)CTTTC intron-variant
rs1000089573 -- 70,170,225(+) GCCAC(A/G)TCCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANO1 Gene

Variant ID Type Subtype PubMed ID
dgv1992n54 CNV loss 21841781
dgv1993n54 CNV loss 21841781
dgv1994n54 CNV loss 21841781
dgv1995n54 CNV loss 21841781
dgv1996n54 CNV loss 21841781
dgv1997n54 CNV loss 21841781
dgv1998n54 CNV loss 21841781
dgv1999n54 CNV loss 21841781
dgv222e199 CNV deletion 23128226
dgv227n67 CNV loss 20364138
dgv228n67 CNV loss 20364138
esv1322895 CNV insertion 17803354
esv1360750 CNV deletion 17803354
esv1620418 CNV deletion 17803354
esv1765426 CNV insertion 17803354
esv23581 CNV gain+loss 19812545
esv23827 CNV gain 19812545
esv2744704 CNV deletion 23290073
esv2744705 CNV deletion 23290073
esv2744706 CNV deletion 23290073
esv2744707 CNV deletion 23290073
esv2744709 CNV deletion 23290073
esv2744710 CNV deletion 23290073
esv3430995 CNV duplication 20981092
esv3438359 CNV duplication 20981092
esv3547970 CNV deletion 23714750
esv3626760 CNV loss 21293372
esv9664 CNV loss 19470904
nsv1115415 CNV duplication 24896259
nsv1118217 CNV deletion 24896259
nsv1127205 CNV deletion 24896259
nsv1141159 CNV deletion 24896259
nsv1146377 CNV deletion 26484159
nsv1150666 CNV deletion 26484159
nsv1159912 CNV duplication 26073780
nsv39588 CNV deletion 16902084
nsv39653 CNV deletion 16902084
nsv469969 CNV loss 18288195
nsv555328 CNV loss 21841781
nsv555329 CNV loss 21841781
nsv555330 CNV loss 21841781
nsv555336 CNV loss 21841781
nsv555366 CNV loss 21841781
nsv555376 CNV loss 21841781
nsv555377 CNV gain 21841781
nsv820744 CNV deletion 20802225
nsv825977 CNV gain 20364138

Variation tolerance for ANO1 Gene

Residual Variation Intolerance Score: 30.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.63; 72.67% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANO1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANO1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANO1 Gene

Disorders for ANO1 Gene

MalaCards: The human disease database

(15) MalaCards diseases for ANO1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
frontal sinus squamous cell carcinoma
  • epidermoid carcinoma of the frontal sinus
liver leiomyoma
  • leiomyoma of the liver
oral cancer
  • malignant neoplasm of mouth
gastrointestinal stromal tumor
  • paraganglioma and gastric stromal sarcoma
frontal sinus cancer
  • malignant neoplasm of frontal sinus
- elite association - COSMIC cancer census association via MalaCards
Search ANO1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ANO1

Genetic Association Database (GAD)
ANO1
Human Genome Epidemiology (HuGE) Navigator
ANO1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANO1
genes like me logo Genes that share disorders with ANO1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ANO1 Gene

Publications for ANO1 Gene

  1. Identification and characterization of TMEM16E and TMEM16F genes in silico. (PMID: 15067359) Katoh M … Katoh M (International journal of oncology 2004) 2 3 22 60
  2. FLJ10261 gene, located within the CCND1-EMS1 locus on human chromosome 11q13, encodes the eight-transmembrane protein homologous to C12orf3, C11orf25 and FLJ34272 gene products. (PMID: 12739008) Katoh M … Katoh M (International journal of oncology 2003) 3 4 22 60
  3. Structure and function of TMEM16 proteins (anoctamins). (PMID: 24692353) Pedemonte N … Galietta LJ (Physiological reviews 2014) 2 3 60
  4. The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels. (PMID: 21984732) Scudieri P … Galietta LJ (Experimental physiology 2012) 3 4 60
  5. Anoctamins are a family of Ca2+-activated Cl- channels. (PMID: 22946059) Tian Y … Kunzelmann K (Journal of cell science 2012) 3 4 60

Products for ANO1 Gene

Sources for ANO1 Gene

Content
Loading form....