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    ANO1 anoctamin 1 [ Homo sapiens (human) ]

    Gene ID: 55107, updated on 5-Nov-2017
    Official Symbol
    ANO1provided by HGNC
    Official Full Name
    anoctamin 1provided by HGNC
    Primary source
    HGNC:HGNC:21625
    See related
    Ensembl:ENSG00000131620 MIM:610108; Vega:OTTHUMG00000167204
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DOG1; TAOS2; ORAOV2; TMEM16A
    Orthologs
    Location:
    11q13.3
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (70078302..70189545)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (69924408..70035651)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1175, pseudogene Neighboring gene ANO1 antisense RNA 2 (head to head) Neighboring gene uncharacterized LOC105369372 Neighboring gene uncharacterized LOC101928473 Neighboring gene Fas associated via death domain Neighboring gene PTPRF interacting protein alpha 1 Neighboring gene H2A histone family member Z pseudogene 4

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Related articles in PubMed

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ10261

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium activated cation channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chloride channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular calcium activated chloride channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    intracellular calcium activated chloride channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    intracellular calcium activated chloride channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intracellular calcium activated chloride channel activity TAS
    Traceable Author Statement
    more info
     
    iodide transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    voltage-gated chloride channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cation transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cellular response to heat ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    chloride transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chloride transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    chloride transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    detection of temperature stimulus involved in sensory perception of pain ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    iodide transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    phospholipase C-activating G-protein coupled receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    positive regulation of insulin secretion involved in cellular response to glucose stimulus IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of anion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chloride channel complex IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    anoctamin-1
    Names
    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-spanning domains)
    tumor-amplified and overexpressed sequence 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_018043.5NP_060513.5  anoctamin-1

      See identical proteins and their annotated locations for NP_060513.5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AI694083, AK001123, AP000879, AY728143
      Consensus CDS
      CCDS44663.1
      UniProtKB/Swiss-Prot
      Q5XXA6
      UniProtKB/TrEMBL
      Q9NW72
      Related
      ENSP00000347454.5, OTTHUMP00000235453, ENST00000355303.9, OTTHUMT00000393685
      Conserved Domains (2) summary
      pfam04547
      Location:320927
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:54317
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

    RNA

    1. NR_030691.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has multiple differences compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest in-frame ORF. Translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AI694083, AK097619, BC027590, BC033036, DB445158, DB450993

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      70078302..70189545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545121.2XP_011543423.1  anoctamin-1 isoform X1

      See identical proteins and their annotated locations for XP_011543423.1

      Conserved Domains (2) summary
      pfam04547
      Location:342949
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:54339
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    2. XM_011545125.2XP_011543427.1  anoctamin-1 isoform X5

      Conserved Domains (2) summary
      pfam04547
      Location:342923
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:54339
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    3. XM_011545123.2XP_011543425.1  anoctamin-1 isoform X2

      Conserved Domains (2) summary
      pfam04547
      Location:342948
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:54339
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    4. XM_011545124.2XP_011543426.1  anoctamin-1 isoform X3

      Conserved Domains (2) summary
      pfam04547
      Location:342945
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:54339
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    5. XM_011545126.2XP_011543428.1  anoctamin-1 isoform X7

      Conserved Domains (2) summary
      pfam04547
      Location:342919
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:54339
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    6. XM_011545127.2XP_011543429.1  anoctamin-1 isoform X8

      Conserved Domains (2) summary
      pfam04547
      Location:320901
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:54317
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    7. XM_017017956.1XP_016873445.1  anoctamin-1 isoform X4

    8. XM_017017957.1XP_016873446.1  anoctamin-1 isoform X6

    9. XM_011545128.2XP_011543430.1  anoctamin-1 isoform X9

      See identical proteins and their annotated locations for XP_011543430.1

      Conserved Domains (2) summary
      pfam04547
      Location:320897
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:54317
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    10. XM_006718602.2XP_006718665.1  anoctamin-1 isoform X10

      Conserved Domains (2) summary
      pfam04547
      Location:314921
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:26311
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    11. XM_011545131.2XP_011543433.1  anoctamin-1 isoform X14

      See identical proteins and their annotated locations for XP_011543433.1

      UniProtKB/Swiss-Prot
      Q5XXA6
      Related
      ENSP00000319477.5, OTTHUMP00000235455, ENST00000316296.9, OTTHUMT00000393687
      Conserved Domains (2) summary
      pfam04547
      Location:292605
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:26289
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    12. XM_006718605.2XP_006718668.1  anoctamin-1 isoform X13

      UniProtKB/Swiss-Prot
      Q5XXA6
      Related
      ENSP00000435797.1, OTTHUMP00000235456, ENST00000530676.5, OTTHUMT00000393688
      Conserved Domains (2) summary
      pfam04547
      Location:204781
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:1201
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    13. XM_006718604.2XP_006718667.1  anoctamin-1 isoform X12

      See identical proteins and their annotated locations for XP_006718667.1

      Conserved Domains (2) summary
      pfam04547
      Location:226833
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:1223
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
    14. XM_011545129.2XP_011543431.1  anoctamin-1 isoform X11

      Conserved Domains (2) summary
      pfam04547
      Location:313920
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:25310
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      69807423..69918650
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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