Human Gene ANO1 (ENST00000530676.5) Description and Page Index
  Description: Homo sapiens anoctamin 1 (ANO1), transcript variant 2, non-coding RNA. (from RefSeq NR_030691)
Gencode Transcript: ENST00000530676.5
Gencode Gene: ENSG00000131620.17
Transcript (Including UTRs)
   Position: hg38 chr11:70,085,422-70,189,252 Size: 103,831 Total Exon Count: 25 Strand: +
Coding Region
   Position: hg38 chr11:70,087,992-70,188,004 Size: 100,013 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:70,085,422-70,189,252)mRNA (may differ from genome)Protein (840 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
LynxMGImyGene2neXtProtOMIMPubMed
ReactomeStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: ANO1_HUMAN
DESCRIPTION: RecName: Full=Anoctamin-1; AltName: Full=Discovered on gastrointestinal stromal tumors protein 1; AltName: Full=Oral cancer overexpressed protein 2; AltName: Full=Transmembrane protein 16A; AltName: Full=Tumor-amplified and overexpressed sequence 2;
FUNCTION: Acts as a calcium-activated chloride channel. Required for normal tracheal development (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cytoplasm.
TISSUE SPECIFICITY: Broadly expressed with higher levels in liver and skeletal muscle.
DOMAIN: The region spanning the fifth and sixth transmembrane domains probably forms the pore-forming region (By similarity).
SIMILARITY: Belongs to the anoctamin family.

-  MalaCards Disease Associations
  MalaCards Gene Search: ANO1
Diseases sorted by gene-association score: frontal sinus squamous cell carcinoma (7), liver leiomyoma (4), oral cancer (4), gastrointestinal stromal tumor (4), frontal sinus cancer (4), small intestine leiomyosarcoma (2), small intestinal sarcoma (2), gastric leiomyosarcoma (2), toxic pneumonitis (2), myxosarcoma (1), lipoadenoma (1), ovarian brenner tumor (1), norwegian scabies (1), deafness, autosomal recessive 63 (1), sarcocystosis (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 43.48 RPKM in Artery - Aorta
Total median expression: 332.88 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -204.20489-0.418 Picture PostScript Text
3' UTR -69.60277-0.251 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR007632 - Anoctamin

Pfam Domains:
PF04547 - Calcium-activated chloride channel

ModBase Predicted Comparative 3D Structure on Q5XXA6
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD Ensembl  
Protein SequenceProtein Sequence Protein Sequence  
AlignmentAlignment Alignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005227 calcium activated cation channel activity
GO:0005229 intracellular calcium activated chloride channel activity
GO:0005247 voltage-gated chloride channel activity
GO:0005254 chloride channel activity
GO:0005515 protein binding
GO:0015111 iodide transmembrane transporter activity
GO:0046983 protein dimerization activity

Biological Process:
GO:0006811 ion transport
GO:0006812 cation transport
GO:0006821 chloride transport
GO:0007200 phospholipase C-activating G-protein coupled receptor signaling pathway
GO:0007275 multicellular organism development
GO:0015705 iodide transport
GO:0034220 ion transmembrane transport
GO:0034605 cellular response to heat
GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus
GO:0050965 detection of temperature stimulus involved in sensory perception of pain
GO:1902476 chloride transmembrane transport

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane
GO:0034707 chloride channel complex
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  KC577595 - Homo sapiens calcium activated chloride channel (Ano1) mRNA, partial cds, alternatively spliced.
KY449273 - Homo sapiens anoctamin 1 variant (ANO1) mRNA, complete cds.
AY728143 - Homo sapiens tumor amplified and overexpressed sequence 2 (TMEM16A) mRNA, complete cds.
AL833582 - Homo sapiens mRNA; cDNA DKFZp686O1156 (from clone DKFZp686O1156).
AK293088 - Homo sapiens cDNA FLJ77446 complete cds.
AB845669 - Homo sapiens TMEM16A mRNA for Ca2+-activated Cl- channel, complete cds.
AK097619 - Homo sapiens cDNA FLJ40300 fis, clone TESTI2029131.
BC033036 - Homo sapiens anoctamin 1, calcium activated chloride channel, mRNA (cDNA clone MGC:33580 IMAGE:4823645), complete cds.
BC027590 - Homo sapiens anoctamin 1, calcium activated chloride channel, mRNA (cDNA clone IMAGE:4837404), partial cds.
HQ418153 - Homo sapiens anoctamine 1 variant (ANO1) mRNA, partial cds.
JD381286 - Sequence 362310 from Patent EP1572962.
JD137779 - Sequence 118803 from Patent EP1572962.
JD224581 - Sequence 205605 from Patent EP1572962.
AK001123 - Homo sapiens cDNA FLJ10261 fis, clone HEMBB1000975.
JD387280 - Sequence 368304 from Patent EP1572962.
AK303971 - Homo sapiens cDNA FLJ54976 complete cds, highly similar to Homo sapiens transmembrane protein 16A (TMEM16A), mRNA.
JD485164 - Sequence 466188 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q5XXA6 (Reactome details) participates in the following event(s):

R-HSA-2684901 ANOs transport cytosolic Cl- to extracellular region
R-HSA-2672351 Stimuli-sensing channels
R-HSA-983712 Ion channel transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A8KAM3, ANO1_HUMAN, DOG1, NR_030691, ORAOV2, Q5XXA6, Q8IYY8, Q8N7V3, TAOS2, TMEM16A, uc058ern.1
UCSC ID: uc058ern.1
RefSeq Accession: NR_030691
Protein: Q5XXA6 (aka ANO1_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.