• Gene id: 55107

Gene Summary

• Gene Symbol: ANO1   Gene   UCSC   Ensembl
• Aliases: DOG1, ORAOV2, TAOS2, TMEM16A
• Gene name: anoctamin 1
• Alternate names: anoctamin-1, Ca2+-activated Cl- channel, anoctamin 1, calcium activated chloride channel, calcium activated chloride channel, discovered on gastrointestinal stromal tumors protein 1, oral cancer overexpressed 2, transmembrane protein 16A (eight membrane-spannin,
• Gene location: 11q13.3 (69985906: 70189529)     Exons: 30     NC_000011.10

Protein Summary

• Protein general information: Q5XXA6  
  • Name: Anoctamin 1 (Discovered on gastrointestinal stromal tumors protein 1) (Oral cancer overexpressed protein 2) (Transmembrane protein 16A) (Tumor amplified and overexpressed sequence 2)
  • Length: 986  
  • Mass: 114078
  • Tissue specificity: Broadly expressed with higher levels in liver, skeletal muscle and gastrointestinal muscles. {ECO
• Sequence:

  MRVNEKYSTLPAEDRSVHIINICAIEDIGYLPSEGTLLNSLSVDPDAECKYGLYFRDGRRKVDYILVYHHKRPSG
  NRTLVRRVQHSDTPSGARSVKQDHPLPGKGASLDAGSGEPPMDYHEDDKRFRREEYEGNLLEAGLELERDEDTKI
  HGVGFVKIHAPWNVLCREAEFLKLKMPTKKMYHINETRGLLKKINSVLQKITDPIQPKVAEHRPQTMKRLSYPFS
  REKQHLFDLSDKDSFFDSKTRSTIVYEILKRTTCTKAKYSMGITSLLANGVYAAAYPLHDGDYNGENVEFNDRKL
  LYEEWARYGVFYKYQPIDLVRKYFGEKIGLYFAWLGVYTQMLIPASIVGIIVFLYGCATMDENIPSMEMCDQRHN
  ITMCPLCDKTCSYWKMSSACATARASHLFDNPATVFFSVFMALWAATFMEHWKRKQMRLNYRWDLTGFEEEEEAV
  KDHPRAEYEARVLEKSLKKESRNKEKRRHIPEESTNKWKQRVKTAMAGVKLTDKVKLTWRDRFPAYLTNLVSIIF
  MIAVTFAIVLGVIIYRISMAAALAMNSSPSVRSNIRVTVTATAVIINLVVIILLDEVYGCIARWLTKIEVPKTEK
  SFEERLIFKAFLLKFVNSYTPIFYVAFFKGRFVGRPGDYVYIFRSFRMEECAPGGCLMELCIQLSIIMLGKQLIQ
  NNLFEIGIPKMKKLIRYLKLKQQSPPDHEECVKRKQRYEVDYNLEPFAGLTPEYMEMIIQFGFVTLFVASFPLAP
  LFALLNNIIEIRLDAKKFVTELRRPVAVRAKDIGIWYNILRGIGKLAVIINAFVISFTSDFIPRLVYLYMYSKNG
  TMHGFVNHTLSSFNVSDFQNGTAPNDPLDLGYEVQICRYKDYREPPWSENKYDISKDFWAVLAARLAFVIVFQNL
  VMFMSDFVDWVIPDIPKDISQQIHKEKVLMVELFMREEQDKQQLLETWMEKERQKDEPPCNHHNTKACPDSLGSP
  APSHAYHGGVL

• Structural information:
  • Interpro: IPR032394  IPR007632  IPR031287  
  • STRING: ENSP00000347454
• Other Databases: GeneCards:  ANO1  Malacards:  ANO1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005254	chloride channel activity	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0055085	transmembrane transport	IBA	biological process
GO:0005229	intracellular calcium activated chloride channel activity	IBA	molecular function
GO:1902476	chloride transmembrane transport	IBA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005229	intracellular calcium activated chloride channel activity	IDA	molecular function
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005229	intracellular calcium activated chloride channel activity	IMP	molecular function
GO:0005887	integral component of plasma membrane	ISS	cellular component
GO:0034605	cellular response to heat	IEA	biological process
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0006821	chloride transport	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0034707	chloride channel complex	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005254	chloride channel activity	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:1902476	chloride transmembrane transport	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0015705	iodide transport	IEA	biological process
GO:0006821	chloride transport	IEA	biological process
GO:1901653	cellular response to peptide	IEA	biological process
GO:0015111	iodide transmembrane transporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005229	intracellular calcium activated chloride channel activity	IEA	molecular function
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0098655	cation transmembrane transport	IEA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0006812	cation transport	IDA	biological process
GO:0005227	calcium activated cation channel activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005229	intracellular calcium activated chloride channel activity	IMP	molecular function
GO:0015111	iodide transmembrane transporter activity	IMP	molecular function
GO:0006821	chloride transport	IMP	biological process
GO:0050965	detection of temperature stimulus involved in sensory perception of pain	ISS	biological process
GO:0007200	phospholipase C-activating G protein-coupled receptor signaling pathway	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0005229	intracellular calcium activated chloride channel activity	ISS	molecular function
GO:0005254	chloride channel activity	IMP	molecular function
GO:0005247	voltage-gated chloride channel activity	ISS	molecular function
GO:0006821	chloride transport	ISS	biological process
GO:1902476	chloride transmembrane transport	IMP	biological process
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	IMP	biological process
GO:0035774	positive regulation of insulin secretion involved in cellular response to glucose stimulus	IGI	biological process
GO:0034605	cellular response to heat	ISS	biological process
GO:0015705	iodide transport	IMP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray