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ANO1 anoctamin 1 [ Homo sapiens (human) ]

Gene ID: 55107, updated on 4-Nov-2022

Summary

Official Symbol
ANO1provided by HGNC
Official Full Name
anoctamin 1provided by HGNC
Primary source
HGNC:HGNC:21625
See related
Ensembl:ENSG00000131620 MIM:610108; AllianceGenome:HGNC:21625
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; INDMS; TAOS2; ORAOV2; TMEM16A
Summary
Enables calcium activated cation channel activity; intracellular calcium activated chloride channel activity; and iodide transmembrane transporter activity. Involved in cation transport; inorganic anion transport; and positive regulation of insulin secretion involved in cellular response to glucose stimulus. Located in apical plasma membrane and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in skin (RPKM 23.9), salivary gland (RPKM 22.1) and 16 other tissues See more
Orthologs
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Genomic context

See ANO1 in Genome Data Viewer
Location:
11q13.3
Exon count:
31
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (69965997..70189530)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (70002959..70204739)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (69832013..70035636)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene FGF3 5' regulatory region Neighboring gene uncharacterized LOC107984368 Neighboring gene fibroblast growth factor 3 Neighboring gene Sharpr-MPRA regulatory region 8845 Neighboring gene uncharacterized LOC105369371 Neighboring gene long intergenic non-protein coding RNA 2753 Neighboring gene RNA, U6 small nuclear 1175, pseudogene Neighboring gene long intergenic non-protein coding RNA 2584 Neighboring gene uncharacterized LOC101928473 Neighboring gene uncharacterized LOC124902705 Neighboring gene Fas associated via death domain

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10261

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium activated cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables chloride channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables intracellular calcium activated chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables intracellular calcium activated chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
enables intracellular calcium activated chloride channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables intracellular calcium activated chloride channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables intracellular calcium activated chloride channel activity TAS
Traceable Author Statement
more info
 
enables iodide transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables signaling receptor binding IEA
Inferred from Electronic Annotation
more info
 
enables voltage-gated chloride channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in cation transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in cation transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to heat ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular response to peptide IEA
Inferred from Electronic Annotation
more info
 
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in chloride transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in chloride transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chloride transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chloride transport ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in detection of temperature stimulus involved in sensory perception of pain ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glial cell projection elongation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in iodide transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in ion transmembrane transport TAS
Traceable Author Statement
more info
 
involved_in mucus secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mucus secretion ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in positive regulation of insulin secretion involved in cellular response to glucose stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
part_of chloride channel complex IEA
Inferred from Electronic Annotation
more info
 
located_in extracellular exosome HDA PubMed 
located_in membrane raft IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in presynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001378092.1NP_001365021.1  anoctamin-1 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (b).
    Source sequence(s)
    AP000879, AP003555
    Consensus CDS
    CCDS91524.1
    Related
    ENSP00000432843.2, ENST00000531349.6
    Conserved Domains (2) summary
    pfam04547
    Location:383989
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:95380
    Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
  2. NM_001378093.1NP_001365022.1  anoctamin-1 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4), as well as variant 5, encodes isoform c.
    Source sequence(s)
    AP000879
    Conserved Domains (2) summary
    pfam04547
    Location:320922
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:54317
    Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
  3. NM_001378094.2NP_001365023.1  anoctamin-1 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5), as well as variant 4, encodes isoform c.
    Source sequence(s)
    AP000879
    Conserved Domains (2) summary
    pfam04547
    Location:320922
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:54317
    Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
  4. NM_001378095.2NP_001365024.1  anoctamin-1 isoform d

    Status: VALIDATED

    Source sequence(s)
    AP000879
    Conserved Domains (2) summary
    pfam04547
    Location:342922
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:54339
    Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
  5. NM_001378096.2NP_001365025.1  anoctamin-1 isoform e

    Status: VALIDATED

    Source sequence(s)
    AP000879
    Conserved Domains (2) summary
    pfam04547
    Location:320896
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:54317
    Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
  6. NM_001378097.2NP_001365026.1  anoctamin-1 isoform f

    Status: VALIDATED

    Source sequence(s)
    AP000879
    Conserved Domains (2) summary
    pfam04547
    Location:287867
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:54284
    Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin
  7. NM_018043.7NP_060513.5  anoctamin-1 isoform a

    See identical proteins and their annotated locations for NP_060513.5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform a.
    Source sequence(s)
    AP000879
    Consensus CDS
    CCDS44663.1
    UniProtKB/Swiss-Prot
    Q5XXA6, Q8N7V3
    UniProtKB/TrEMBL
    Q9NW72
    Related
    ENSP00000347454.5, ENST00000355303.10
    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_030691.2 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
    Related
    ENST00000530676.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    69965997..70189530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427185.1XP_047283141.1  anoctamin-1 isoform X7

  2. XM_047427181.1XP_047283137.1  anoctamin-1 isoform X3

  3. XM_047427184.1XP_047283140.1  anoctamin-1 isoform X6

  4. XM_047427183.1XP_047283139.1  anoctamin-1 isoform X5

  5. XM_047427182.1XP_047283138.1  anoctamin-1 isoform X5

  6. XM_047427186.1XP_047283142.1  anoctamin-1 isoform X8

    UniProtKB/Swiss-Prot
    Q8N7V3
  7. XM_011545123.3XP_011543425.1  anoctamin-1 isoform X1

    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
  8. XM_011545124.3XP_011543426.1  anoctamin-1 isoform X2

    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
  9. XM_011545127.3XP_011543429.1  anoctamin-1 isoform X4

    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
  10. XM_006718602.3XP_006718665.1  anoctamin-1 isoform X9

    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_011545129.3XP_011543431.1  anoctamin-1 isoform X10

    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
  12. XM_011545131.3XP_011543433.1  anoctamin-1 isoform X12

    See identical proteins and their annotated locations for XP_011543433.1

    UniProtKB/Swiss-Prot
    Q5XXA6
    Related
    ENSP00000319477.5, ENST00000316296.9
    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
  13. XM_047427187.1XP_047283143.1  anoctamin-1 isoform X11

    Related
    ENST00000689710.1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    70002959..70204739
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)