Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55107
Gene name Gene Name - the full gene name approved by the HGNC.
Anoctamin 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ANO1
Synonyms (NCBI Gene) Gene synonyms aliases
DOG1, INDMS, MYMY7, ORAOV2, TAOS2, TMEM16A
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MYMY7
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.3
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018614 hsa-miR-335-5p Microarray 18185580
MIRT022406 hsa-miR-124-3p Microarray 18668037
MIRT785639 hsa-miR-1290 CLIP-seq
MIRT785640 hsa-miR-146b-3p CLIP-seq
MIRT785641 hsa-miR-181a CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding IEA
GO:0005227 Function Calcium activated cation channel activity IDA 22946059
GO:0005229 Function Intracellular calcium activated chloride channel activity IBA 21873635
GO:0005229 Function Intracellular calcium activated chloride channel activity IDA 21984732
GO:0005229 Function Intracellular calcium activated chloride channel activity IMP 22178883, 22946059
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610108 21625 ENSG00000131620
Protein
UniProt ID Q5XXA6
Protein name Anoctamin-1 (Discovered on gastrointestinal stromal tumors protein 1) (Oral cancer overexpressed protein 2) (Transmembrane protein 16A) (Tumor-amplified and overexpressed sequence 2)
Protein function Calcium-activated chloride channel (CaCC) (PubMed:20056604, PubMed:22178883, PubMed:22946059, PubMed:32487539). Plays a role in transepithelial anion transport and smooth muscle contraction. Required for the normal functioning of the interstitia
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16178 Anoct_dimer 54 317 Dimerisation domain of Ca+-activated chloride-channel, anoctamin Family
PF04547 Anoctamin 320 926 Calcium-activated chloride channel Family
Tissue specificity TISSUE SPECIFICITY: Expressed in nasal epithelial cells (at protein level) (PubMed:32487539). In the kidney, expressed in the collecting duct (at protein level) (PubMed:24913262). Broadly expressed with higher levels in liver, skeletal muscle and gastroin
Sequence
MRVNEKYSTLPAEDRSVHIINICAIEDIGYLPSEGTLLNSLSVDPDAECKYGLYFRDGRR
KVDYILVYHHKRPSGNRTLVRRVQHSDTPSGARSVKQDHPLPGKGASLDAGSGEPPMDYH
EDDKRFRREEYEGNLLEAGLELERDEDTKIHGVGFVKIHAPWNVLCREAEFLKLKMPTKK
MYHINETRGLLKKINSVLQKITDPIQPKVAEHRPQTMKRLSYPFSREKQHLFDLSDKDSF
FDSKTRSTIVYEILKRTTCTKAKYSMGITSLLANGVYAAAYPLHDGDYNGENVEFNDRKL
LYEEWARYGVFYKYQPI
DLVRKYFGEKIGLYFAWLGVYTQMLIPASIVGIIVFLYGCATM
DENIPSMEMCDQRHNITMCPLCDKTCSYWKMSSACATARASHLFDNPATVFFSVFMALWA
ATFMEHWKRKQMRLNYRWDLTGFEEEEEAVKDHPRAEYEARVLEKSLKKESRNKEKRRHI
PEESTNKWKQRVKTAMAGVKLTDKVKLTWRDRFPAYLTNLVSIIFMIAVTFAIVLGVIIY
RISMAAALAMNSSPSVRSNIRVTVTATAVIINLVVIILLDEVYGCIARWLTKIEVPKTEK
SFEERLIFKAFLLKFVNSYTPIFYVAFFKGRFVGRPGDYVYIFRSFRMEECAPGGCLMEL
CIQLSIIMLGKQLIQNNLFEIGIPKMKKLIRYLKLKQQSPPDHEECVKRKQRYEVDYNLE
PFAGLTPEYMEMIIQFGFVTLFVASFPLAPLFALLNNIIEIRLDAKKFVTELRRPVAVRA
KDIGIWYNILRGIGKLAVIINAFVISFTSDFIPRLVYLYMYSKNGTMHGFVNHTLSSFNV
SDFQNGTAPNDPLDLGYEVQICRYKDYREPPWSENKYDISKDFWAVLAARLAFVIVFQNL
VMFMSDFVDWVIPDIPKDISQQIHKE
KVLMVELFMREEQDKQQLLETWMEKERQKDEPPC
NHHNTKACPDSLGSPAPSHAYHGGVL
Sequence length 986
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Stimuli-sensing channels
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Moyamoya Disease moyamoya disease 7 GenCC
Attention Deficit Hyperactivity Disorder Attention Deficit Hyperactivity Disorder GWAS
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Cholelithiasis Cholelithiasis GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Associate 25690258, 34717148
Adenocarcinoma of Lung Associate 34329684
Alzheimer Disease Associate 35316222
Anemia Associate 24379641
Aneurysm Associate 37253099
Arterial Occlusive Diseases Associate 37253099
Arthritis Rheumatoid Associate 28413214
Brain Diseases Associate 33842002
Breast Neoplasms Associate 23866066, 24886289, 27041791, 29949674, 34717148
Breast Neoplasms Stimulate 25961581